# docId	topicIri	curationType	latestSearchDate	lastUpdated	lastAuthor	context	contextIri	release	releaseDate	geneOrVariant	geneOmim	disease	omim	status-overall	status-stg1	status-stg2	status-scoring	outcome	outcomeScoringGroup	intervention	interventionScoringGroup	severity	likelihood	natureOfIntervention	effectiveness	overall
AC1084	/AC1084	Gene-Condition	Thu Jul 10 00:00:00 UTC 2025	Thu, 18 Dec 2025 19:20:12 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1084	1.0.0	Thu, 18 Dec 2025 00:00:00 -0000	CYP27A1	606530	Cerebrotendinous xanthomatosis	213700	Released	Complete	Complete	Complete	Morbidity and mortality resulting from progressive lipid accumulation	GroupA	Referral to specialist for treatment including bile acids	GroupA	2	3C	3	2N	10CN
AC1055	/AC1055	Gene-Condition	Wed Aug 24 00:00:00 UTC 2022	Tue, 06 Dec 2022 18:24:04 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1055	1.0.0	Tue, 06 Dec 2022 00:00:00 -0000	MLH1,MSH2,MSH6,PMS2	120436,609309,600678,600259	Mismatch repair cancer syndrome (MMRCS)	276300,619096,619097,619101	Released	Complete	Complete	Complete	Morbidity and mortality from constitutional mismatch repair deficiency-related neoplasia	GroupA	Evaluation and surveillance by specialist(s) to detect neoplasia and guide treatment	GroupA	2	3C	2	2N	9CN
AC1052	/AC1052	Gene-Condition	Mon Feb 12 00:00:00 UTC 2024	Wed, 10 Jul 2024 16:50:10 -0000	Hunter Jessica	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1052	1.0.1	Wed, 10 Jul 2024 00:00:00 -0000	SLC25A15	603861	Ornithine translocase deficiency	238970	Released	Complete	Complete	Complete	Morbidity due to ornithine translocase deficiency	GroupA	Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, and emergency planning	GroupA	2	0D	2	2C	6DC
AC1051	/AC1051	Gene-Condition	Mon May 15 00:00:00 UTC 2023	Mon, 04 Mar 2024 21:47:07 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1051	1.0.0	Mon, 04 Mar 2024 00:00:00 -0000	ARG1	608313	Hyperargininemia	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1048	/AC1048	Gene-Condition	Mon Feb 05 00:00:00 UTC 2024	Wed, 07 Aug 2024 16:49:18 -0000	Reynolds Elizabeth	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1048	1.0.0	Wed, 07 Aug 2024 00:00:00 -0000	HNF1B	189907	Renal cysts and diabetes syndrome (RCAD)	137920	Released	Complete	Incomplete	Complete	Diabetes-related morbidity and mortality	GroupA	Evaluation by specialist to guide management	GroupA	2	3N	3	2N	10NN
AC1048	/AC1048	Gene-Condition	Mon Feb 05 00:00:00 UTC 2024	Wed, 07 Aug 2024 16:49:18 -0000	Reynolds Elizabeth	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1048	1.0.0	Wed, 07 Aug 2024 00:00:00 -0000	HNF1B	189907	Renal cysts and diabetes syndrome (RCAD)	137920	Released	Complete	Incomplete	Complete	Kidney-related morbidity	GroupA	Evaluation by specialist to guide surveillance and management	GroupA	2	3N	3	2D	10ND
AC1045	/AC1045	Gene-Condition	Thu Mar 10 00:00:00 UTC 2022	Thu, 30 Mar 2023 19:17:12 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1045	1.0.0	Thu, 30 Mar 2023 00:00:00 -0000	RPS10,RPS19,RPS24	603632,603474,602412	Diamond-Blackfan anemia	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1041	/AC1041	Gene-Condition	Mon Jun 28 00:00:00 UTC 2021	Wed, 09 Feb 2022 13:30:21 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1041	1.0.3	Wed, 09 Feb 2022 00:00:00 -0000	BCKDHA,BCKDHB,DBT	608348,248611,248610	Maple Syrup Urine Disease	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1036	/AC1036	Gene-Condition	Fri Aug 04 00:00:00 UTC 2023	Mon, 04 Mar 2024 21:43:52 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1036	1.0.0	Mon, 04 Mar 2024 00:00:00 -0000	SLC2A1	138140	GLUT1 deficiency syndrome	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1035	/AC1035	Gene-Condition	Tue May 09 00:00:00 UTC 2023	Mon, 04 Mar 2024 21:37:30 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1035	1.0.0	Mon, 04 Mar 2024 00:00:00 -0000	SCN1A	182389	Generalized epilepsy with febrile seizures plus (GEFS+), type 2	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1034	/AC1034	Gene-Condition	Tue May 09 00:00:00 UTC 2023	Mon, 04 Mar 2024 21:40:28 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1034	1.0.0	Mon, 04 Mar 2024 00:00:00 -0000	SCN1A	182389	Dravet syndrome	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1032	/AC1032	Gene-Condition	Mon Mar 31 00:00:00 UTC 2025	Wed, 06 Aug 2025 23:46:04 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1032	2.0.0	Wed, 06 Aug 2025 00:00:00 -0000	LPIN1	605518	LPIN1 Deficiency	268200	Released	Complete	Complete	Complete	Rhabdomyolysis-related morbidity	GroupA	Avoidance of triggers and prompt medical management of episodes	GroupA	2	0D	3	2B	7DB
AC1031	/AC1031	Gene-Condition	Tue Aug 08 00:00:00 UTC 2023	Mon, 05 Feb 2024 22:08:29 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1031	1.0.0	Mon, 05 Feb 2024 00:00:00 -0000	LAMP2	309060	Danon disease	300257	Released	Complete	Complete	Complete	Danon-related morbidity and mortality from arrhythmias and heart failure	GroupA	Evaluation by specialists to guide surveillance and treatment including consideration for implantable device or heart transplant	GroupA	2	3N	1	2N	8NN
AC1030	/AC1030	Gene-Condition	Mon Sep 19 00:00:00 UTC 2022	Thu, 04 May 2023 23:10:57 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1030	1.0.0	Thu, 04 May 2023 00:00:00 -0000	GSS	601002	Inherited glutathione synthetase deficiency	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1028	/AC1028	Gene-Condition	Tue May 04 00:00:00 UTC 2021	Wed, 09 Feb 2022 13:25:55 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1028	1.0.2	Wed, 09 Feb 2022 00:00:00 -0000	ASL	608310	Argininosuccinate Lyase Deficiency	(No paired disease(s) for gene)	Released	Failed	Complete	Complete		N/A		N/A					
AC1025	/AC1025	Gene-Condition	Mon Jun 07 00:00:00 UTC 2021	Wed, 09 Feb 2022 13:23:16 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1025	1.0.4	Wed, 09 Feb 2022 00:00:00 -0000	FOLR1	136430	Neurodegeneration due to cerebral folate transport deficiency	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC130	/AC130	Gene-Condition	NA	Thu, 04 Apr 2019 16:35:07 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC130	2.0.0	Thu, 04 Apr 2019 00:00:00 -0000	SDHB	185470	Hereditary Paragangliomas- Pheochromocytoma Syndrome (Paragangliomas 4)	(No paired disease(s) for gene)	Retracted	Incomplete	Incomplete	Incomplete	Paraganglioma development	N/A	Surveillance	N/A	2	3C	3	2C	10CC
AC1013	/AC1013	Gene-Condition	Tue Jun 20 00:00:00 UTC 2017	Wed, 09 Feb 2022 13:12:06 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1013	1.0.2	Wed, 09 Feb 2022 00:00:00 -0000	IVD	607036	Isovaleric acidemia	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1024	/AC1024	Gene-Condition	Tue Mar 09 00:00:00 UTC 2021	Wed, 09 Feb 2022 13:22:03 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1024	1.0.1	Wed, 09 Feb 2022 00:00:00 -0000	SMARCA4,SMARCB1	603254,601607	Rhabdoid tumor predisposition syndrome	613325,609322	Released	Complete	Complete	Complete	Morbidity and mortality from RTPS-related tumors	GroupA	Imaging surveillance to guide detection and initiate multimodal treatment (including a combination of surgery, chemotherapy, and/or radiation therapy)	GroupA	2	0D	2	0D	4DD
AC1010	/AC1010	Gene-Condition	Mon Nov 25 00:00:00 UTC 2019	Wed, 09 Feb 2022 13:09:01 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1010	1.0.4	Wed, 09 Feb 2022 00:00:00 -0000	GALNS	612222	Mucopolysaccharidosis Type IVA	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1020	/AC1020	Gene-Condition	Mon Oct 12 00:00:00 UTC 2020	Wed, 09 Feb 2022 13:19:08 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1020	1.0.2	Wed, 09 Feb 2022 00:00:00 -0000	PIK3R1	171833	SHORT syndrome	269880	Released	Complete	Complete	Complete	Morbidity due to underlying lipodystrophy-related disorders of glucose and lipid metabolism	GroupA	Optimal metabolic control (including management of hyperglycemia, hyperlipidemia, and lipodystrophy)	GroupA	1	3C	3	2C	9CC
AC150	/AC150	Gene-Condition	Tue Mar 10 00:00:00 UTC 2015	Wed, 09 Feb 2022 13:57:32 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC150	1.1.4	Wed, 09 Feb 2022 00:00:00 -0000	MAX,SDHA,SDHAF2,SDHB,SDHC,SDHD,TMEM127	154950,600857,613019,185470,602413,602690,613403	Paragangliomas 1, 2, 3, 4, 5; Pheochromocytoma	171300,614165,601650,115310,605373,168000,171300	Released	Complete	Complete	Complete	Paraganglioma development	GroupA	Surveillance	GroupA	2	3C	3	3B	11CB
AC095	/AC095	Gene-Condition	Thu Sep 07 00:00:00 UTC 2023	Wed, 03 Jan 2024 23:53:11 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC095	2.0.0	Wed, 03 Jan 2024 00:00:00 -0000	HMBS	609806	Acute Intermittent Porphyria	176000	Released	Complete	Complete	Complete	Morbidity and mortality from acute neurovisceral attacks	GroupA	Evaluation and management by specialists, including hemin administration, avoidance of triggers, and patient education	GroupA	2	2D	3	3B	10DB
AC095	/AC095	Gene-Condition	Thu Sep 07 00:00:00 UTC 2023	Wed, 03 Jan 2024 23:53:11 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC095	2.0.0	Wed, 03 Jan 2024 00:00:00 -0000	HMBS	609806	Acute Intermittent Porphyria	176000	Released	Complete	Complete	Complete	Morbidity and mortality from hepatocellular carcinoma (HCC)	GroupA	Evaluation and surveillance by specialists for early detection of HCC	GroupA	2	1A	3	2B	8AB
AC1012	/AC1012	Gene-Condition	Tue Jul 09 00:00:00 UTC 2019	Wed, 09 Feb 2022 13:11:19 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1012	1.0.2	Wed, 09 Feb 2022 00:00:00 -0000	SPRED1	609291	Legius syndrome	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC127	/AC127	Gene-Condition	Tue Sep 19 00:00:00 UTC 2017	Mon, 01 Aug 2022 22:07:55 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC127	(ERR: Missing)	Mon, 01 Aug 2022 00:00:00 -0000	ATM,CHEK2	607585,604373	Breast Cancer	114480,114480	Released	Incomplete	Complete	Complete	Breast Cancer (ATM)	GroupA	Chemoprevention	GroupA	2	2A	2	2B	8AB
AC127	/AC127	Gene-Condition	Tue Sep 19 00:00:00 UTC 2017	Mon, 01 Aug 2022 22:07:55 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC127	(ERR: Missing)	Mon, 01 Aug 2022 00:00:00 -0000	ATM,CHEK2	607585,604373	Breast Cancer	114480,114480	Released	Incomplete	Complete	Complete	Breast Cancer (ATM)	GroupA	Surveillance	GroupA	2	2A	3	2B	9AB
AC127	/AC127	Gene-Condition	Tue Sep 19 00:00:00 UTC 2017	Mon, 01 Aug 2022 22:07:55 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC127	(ERR: Missing)	Mon, 01 Aug 2022 00:00:00 -0000	ATM,CHEK2	607585,604373	Breast Cancer	114480,114480	Released	Incomplete	Complete	Complete	Breast cancer (CHEK2)	GroupA	Chemoprevention	GroupA	2	2C	2	2B	8CB
AC127	/AC127	Gene-Condition	Tue Sep 19 00:00:00 UTC 2017	Mon, 01 Aug 2022 22:07:55 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC127	(ERR: Missing)	Mon, 01 Aug 2022 00:00:00 -0000	ATM,CHEK2	607585,604373	Breast Cancer	114480,114480	Released	Incomplete	Complete	Complete	Breast cancer (CHEK2)	GroupA	Surveillance	GroupA	2	2C	3	2B	9CB
AC1005	/AC1005	Gene-Condition	Thu Jan 30 00:00:00 UTC 2020	Wed, 09 Feb 2022 13:04:47 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1005	1.0.1	Wed, 09 Feb 2022 00:00:00 -0000	FGFR3	134934	Achondroplasia	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1011	/AC1011	Gene-Condition	Tue Dec 03 00:00:00 UTC 2019	Wed, 09 Feb 2022 13:10:13 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1011	1.0.2	Wed, 09 Feb 2022 00:00:00 -0000	DHCR7	602858	Smith-Lemli-Optiz Syndrome	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1022	/AC1022	Gene-Condition	Sat Dec 26 00:00:00 UTC 2020	Wed, 09 Feb 2022 13:20:19 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1022	1.0.2	Wed, 09 Feb 2022 00:00:00 -0000	CPT2	600650	Carnitine palmitoyltransferase II deficiency	255110,600649,608836	Released	Complete	Complete	Complete	Morbidity associated with metabolic decompensation	GroupA	Metabolic management (dietary management and illness protocols)	GroupA	1	3C	3	0D	7CD
AC1022	/AC1022	Gene-Condition	Sat Dec 26 00:00:00 UTC 2020	Wed, 09 Feb 2022 13:20:19 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1022	1.0.2	Wed, 09 Feb 2022 00:00:00 -0000	CPT2	600650	Carnitine palmitoyltransferase II deficiency	255110,600649,608836	Released	Complete	Complete	Complete	Morbidity associated with metabolic decompensation	GroupA	Triheptanoin treatment	GroupA	1	3C	2	2N	8CN
AC1004	/AC1004	Gene-Condition	Tue Aug 06 00:00:00 UTC 2019	Wed, 09 Feb 2022 13:03:40 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1004	1.0.4	Wed, 09 Feb 2022 00:00:00 -0000	PRKAR1A	188830	Carney Complex	160980	Released	Complete	Complete	Complete	Morbidity and mortality from cardiac myxomas	GroupA	Cardiac imaging to detect and guide excision of tumors	GroupA	3	3C	3	3N	12CN
AC1003	/AC1003	Gene-Condition	Mon Jul 01 00:00:00 UTC 2019	Wed, 22 Apr 2020 21:58:40 -0000	Hunter Jessica	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1003	1.0.1	Wed, 22 Apr 2020 00:00:00 -0000	BRAF,KRAS,NRAS,PTPN11,RAF1,RIT1,SOS1,SOS2	164757,190070,164790,176876,164760,609591,182530,601247	Noonan syndrome	613706,609942,613224,163950,611553,615355,610733,616559	Released	Complete	Complete	Complete	Cardiac manifestations	GroupA	Cardiac surveillance	GroupA	2	3C	3	0D	8CD
AC061	/AC061	Gene-Condition	Mon May 15 00:00:00 UTC 2023	Wed, 20 Sep 2023 21:25:29 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC061	2.0.0	Wed, 20 Sep 2023 00:00:00 -0000	FH	136850	Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)	150800	Released	Complete	Complete	Complete	Morbidity and mortality from HLRCC-associated renal cell cancer	GroupA	Evaluation and surveillance by specialist to detect renal cell cancer and guide treatment	GroupA	2	2C	3	3C	10CC
AC1002	/AC1002	Gene-Condition	Mon Dec 17 00:00:00 UTC 2018	Wed, 09 Feb 2022 13:01:56 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1002	1.1.3	Wed, 09 Feb 2022 00:00:00 -0000	ALDH7A1	107323	Pyridoxine-dependent epilepsy	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1038	/AC1038	Gene-Condition	Sat May 29 00:00:00 UTC 2021	Wed, 09 Feb 2022 13:27:08 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1038	0.0.1	Wed, 09 Feb 2022 00:00:00 -0000	F7	613878	Factor VII deficiency	227500	Released	Complete	Complete	Complete	Bleeding complications with pregnancy, procedures or trauma	GroupA	Development and implementation of comprehensive management plan by hematology team based on activity levels and bleeding history	GroupA	2	3C	3	2B	10CB
AC056	/AC056	Gene-Condition	Mon Aug 14 00:00:00 UTC 2017	Wed, 22 Apr 2020 21:17:11 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC056	2.1.1	Wed, 22 Apr 2020 00:00:00 -0000	ACTC1,CSRP3,MYBPC3,MYH7,MYL2,MYL3,PRKAG2,TNNI3,TNNT2,TPM1	102540,600824,600958,160760,160781,160790,602743,191044,191045,191010	Familial Hypertrophic Cardiomyopathy	612098,612124,115197,192600,608758,608751,600858,613690,115195,115196	Released	Complete	Complete	Complete	Sudden Cardiac Death	GroupA	ICD Implantation	GroupA	3	2N	2	3N	10NN
AC1015	/AC1015	Gene-Condition	Mon Nov 02 21:15:11 UTC 2020	Wed, 09 Feb 2022 13:14:05 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1015	1.0.1	Wed, 09 Feb 2022 00:00:00 -0000	PHYH	602026	Refsum disease	266500	Released	Complete	Complete	Complete	Progression of neurologic, cardiac, and ophthalmologic sequalae	GroupA	Phytanic acid lowering therapy	GroupA	2	3C	2	2D	9CD
AC110	/AC110	Gene-Condition	Mon Mar 27 00:00:00 UTC 2023	Mon, 05 Jun 2023 19:37:55 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC110	1.2.4	Mon, 05 Jun 2023 00:00:00 -0000	PAH	612349	Phenylketonuria (PKU)	261600	Released	Complete	Complete	Complete	Adverse pregnancy outcomes	GroupA	Pre-conception and pregnancy management by specialists to achieve target phenylalanine levels with dietary and/or pharmacologic therapies	GroupA	2	3C	2	0D	7CD
AC135	/AC135	Gene-Condition	Tue May 09 00:00:00 UTC 2017	Thu, 20 Apr 2023 20:04:07 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC135	1.2.3	Thu, 20 Apr 2023 00:00:00 -0000	PROC	612283	Thrombophilia due to protein C deficiency	176860	Released	Incomplete	Complete	Complete	Venous thromboembolism	GroupA	High risk obstetric care for pregnant women (includes pharmacological prophylaxis)	GroupA	2	2C	2	2B	8CB
AC135	/AC135	Gene-Condition	Tue May 09 00:00:00 UTC 2017	Thu, 20 Apr 2023 20:04:07 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC135	1.2.3	Thu, 20 Apr 2023 00:00:00 -0000	PROC	612283	Thrombophilia due to protein C deficiency	176860	Released	Incomplete	Complete	Complete	Venous thromboembolism	GroupA	Pharmacological prophylaxis in high-risk situations for men and non-pregnant women	GroupA	2	2C	2	2B	8CB
AC086	/AC086	Gene-Condition	Fri Jun 03 00:00:00 UTC 2022	Tue, 04 Oct 2022 20:25:17 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC086	2.0.0	Tue, 04 Oct 2022 00:00:00 -0000	CDKN2A	600160	Pancreatic cancer/melanoma syndrome	606719	Released	Complete	Complete	Complete	Morbidity and mortality from melanoma	GroupA	Skin surveillance to detect melanoma and guide melanoma treatment	GroupA	2	2C	3	2N	9CN
AC086	/AC086	Gene-Condition	Fri Jun 03 00:00:00 UTC 2022	Tue, 04 Oct 2022 20:25:17 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC086	2.0.0	Tue, 04 Oct 2022 00:00:00 -0000	CDKN2A	600160	Pancreatic cancer/melanoma syndrome	606719	Released	Complete	Complete	Complete	Morbidity and mortality from pancreatic cancer	GroupA	Referral to specialist to guide surveillance plans for early detection of pancreatic cancer or precursors and guide pancreatic cancer treatment	GroupA	2	2C	2	2B	8CB
AC148	/AC148	Gene-Condition	Wed Dec 20 00:00:00 UTC 2017	Wed, 09 Feb 2022 13:56:07 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC148	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	DNM2	602378	DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy	606482	Released	Complete	Complete	Complete	Demyelinating peripheral neuropathy	GroupA	Regular medical evaluations	GroupA	1	3C	Not Scored	IN	IN
AC148	/AC148	Gene-Condition	Wed Dec 20 00:00:00 UTC 2017	Wed, 09 Feb 2022 13:56:07 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC148	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	DNM2	602378	DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy	606482	Released	Complete	Complete	Complete	Demyelinating peripheral neuropathy	GroupA	Avoidance of vincristine, paclitaxel, succinylcholine	GroupA	1	3C	2	3C	9CC
AC076	/AC076	Gene-Condition	Tue Jan 12 00:00:00 UTC 2021	Wed, 09 Feb 2022 12:48:53 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076	2.0.1	Wed, 09 Feb 2022 00:00:00 -0000	RYR1,CACNA1S	180901,114208	Malignant Hyperthermia Susceptibility	145600,601887	Released	Complete	Complete	Complete	Malignant hyperthermia event	GroupA	Avoidance of triggering anesthetics	GroupA	2	3C	3	3B	11CB
AC076	/AC076	Gene-Condition	Tue Jan 12 00:00:00 UTC 2021	Wed, 09 Feb 2022 12:48:53 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC076	2.0.1	Wed, 09 Feb 2022 00:00:00 -0000	RYR1,CACNA1S	180901,114208	Malignant Hyperthermia Susceptibility	145600,601887	Released	Complete	Complete	Complete	Malignant hyperthermia event	GroupA	Awareness of high-risk situations	GroupA	2	3C	3	0D	8CD
AC115	/AC115	Gene-Condition	Thu Jan 02 00:00:00 UTC 2020	Wed, 09 Feb 2022 13:39:07 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC115	2.0.2	Wed, 09 Feb 2022 00:00:00 -0000	STK11	602216	Peutz-Jeghers Syndrome	175200	Released	Complete	Complete	Complete	Morbidity and mortality from GI cancer	GroupA	Surveillance to detect GI cancer and guide initiation of GI cancer treatment	GroupA	2	3A	2	2B	9AB
AC115	/AC115	Gene-Condition	Thu Jan 02 00:00:00 UTC 2020	Wed, 09 Feb 2022 13:39:07 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC115	2.0.2	Wed, 09 Feb 2022 00:00:00 -0000	STK11	602216	Peutz-Jeghers Syndrome	175200	Released	Complete	Complete	Complete	Morbidity and mortality from breast cancer	GroupA	Imaging surveillance to detect breast cancer and guide initiation of breast cancer treatment	GroupA	2	3C	3	2B	10CB
AC1007	/AC1007	Gene-Condition	Tue Nov 15 00:00:00 UTC 2022	Sat, 25 Feb 2023 02:28:47 -0000	Henninger Michelle	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1007	1.0.0	Fri, 24 Feb 2023 00:00:00 -0000	DNAI1,DNAH5,DNAH11,CCDC39,CCDC40,SPAG1,CCNO,DNAAF3,DNAI2,HYDIN,RSPH1,RSPH4A,FOXJ1,MCIDAS,CCDC103,CFAP300,ODAD1,ODAD2,ODAD4	604366,603335,603339,613798,613799,603395,607752,614566,605483,610812,609314,612647,602291,614086,614677,618058,615038,615408,617095	Primary Ciliary Dyskinesia (PCD)	244400,603335,611884,613807,613808,615505,615872,606763,612444,608647,615481,612649,618699,614086,614677,618063,615067,615451,617092	Released	Complete	Complete	Complete	Morbidity and mortality secondary to PCD	GroupB	Evaluation and management by a multidisciplinary care center with specialization in PCD	GroupB	1	3A	2	0D	6AD
AC1057	/AC1057	Gene-Condition	Mon Sep 19 00:00:00 UTC 2022	Thu, 04 May 2023 22:59:33 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1057	1.0.0	Thu, 04 May 2023 00:00:00 -0000	ALK	105590	Susceptibility to neuroblastoma-3	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC099	/AC099	Gene-Condition	Mon Sep 09 00:00:00 UTC 2024	Mon, 03 Feb 2025 20:35:27 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC099	2.0.0	Mon, 03 Feb 2025 00:00:00 -0000	NOTCH3	600276	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukocenphalopathy, type 1	125310	Released	Complete	Complete	Complete	Morbidity and mortality from stroke	GroupA	Specialist care and management, including monitoring and controlling vascular risk factors	GroupA	2	2A	3	1D	8AD
AC124	/AC124	Gene-Condition	Mon Mar 27 00:00:00 UTC 2017	Wed, 09 Feb 2022 13:44:32 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC124	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	NF1	613113	Neurofibromatosis type 1	162200	Released	Incomplete	Complete	Complete	Malignant peripheral nerve sheath tumors	GroupA	Consultation with a provider experienced with NF1 for educational purposes	GroupA	2	2C	3	0D	7CD
AC124	/AC124	Gene-Condition	Mon Mar 27 00:00:00 UTC 2017	Wed, 09 Feb 2022 13:44:32 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC124	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	NF1	613113	Neurofibromatosis type 1	162200	Released	Incomplete	Complete	Complete	Breast Cancer	GroupA	Surveillance	GroupA	2	2C	3	2B	9CB
AC1009	/AC1009	Gene-Condition	Thu Mar 12 00:00:00 UTC 2020	Wed, 09 Feb 2022 13:07:11 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1009	1.0.3	Wed, 09 Feb 2022 00:00:00 -0000	ITGB3,ITGA2B	173470,607759	Glanzmann thrombasthenia	273800,273800	Released	Complete	Complete	Complete	Severe or prolonged hemorrhage	GroupA	Infusion therapy as indicated by hematology team	GroupA	2	2B	2	3B	9BB
AC028	/AC028	Gene-Condition	Mon Feb 14 00:00:00 UTC 2022	Sun, 24 Mar 2024 14:59:51 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC028	1.2.4	Sun, 24 Mar 2024 00:00:00 -0000	ATP7B	606882	Wilson Disease	277900	Released	Complete	Complete	Complete	Morbidity and mortality from copper deposition	GroupA	Referral to specialist for evaluation and to guide appropriate therapy including diet, copper chelation and zinc therapy	GroupA	2	3C	2	3A	10CA
AC138	/AC138	Gene-Condition	Thu Aug 21 00:00:00 UTC 2025	Tue, 24 Feb 2026 19:30:33 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC138	3.0.0	Tue, 24 Feb 2026 00:00:00 -0000	DMD,LMNA,TNNT2,TTN,MYH7,FLNC,BAG3,DES,SCN5A,RBM20,TNNC1,PLN,DSP	300377,150330,191045,188840,160760,102565,603883,125660,600163,613171,191040,172405,125647	Dilated cardiomyopathy	302045,115200,601494,604145,613426,617047,613881,604765,601154,613172,611879,609909,615821	Released	Complete	Complete	Complete	Sudden cardiac death	GroupA	Surveillance by specialists to guide consideration of implantable cardioverter defibrillator (ICD)	GroupA	3	2C	2	3B	10CB
AC138	/AC138	Gene-Condition	Thu Aug 21 00:00:00 UTC 2025	Tue, 24 Feb 2026 19:30:33 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC138	3.0.0	Tue, 24 Feb 2026 00:00:00 -0000	DMD,LMNA,TNNT2,TTN,MYH7,FLNC,BAG3,DES,SCN5A,RBM20,TNNC1,PLN,DSP	300377,150330,191045,188840,160760,102565,603883,125660,600163,613171,191040,172405,125647	Dilated cardiomyopathy	302045,115200,601494,604145,613426,617047,613881,604765,601154,613172,611879,609909,615821	Released	Complete	Complete	Complete	Sudden cardiac death	GroupA	Surveillance by specialists to guide pharmacotherapy	GroupA	3	2C	3	2B	10CB
AC138	/AC138	Gene-Condition	Thu Aug 21 00:00:00 UTC 2025	Tue, 24 Feb 2026 19:30:33 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC138	3.0.0	Tue, 24 Feb 2026 00:00:00 -0000	DMD,LMNA,TNNT2,TTN,MYH7,FLNC,BAG3,DES,SCN5A,RBM20,TNNC1,PLN,DSP	300377,150330,191045,188840,160760,102565,603883,125660,600163,613171,191040,172405,125647	Dilated cardiomyopathy	302045,115200,601494,604145,613426,617047,613881,604765,601154,613172,611879,609909,615821	Released	Complete	Complete	Complete	Heart failure	GroupA	Surveillance by specialists to guide pharmacotherapy	GroupA	2	3N	3	3B	11NB
AC102	/AC102	Gene-Condition	Mon May 23 00:00:00 UTC 2016	Wed, 09 Feb 2022 13:18:27 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC102	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	MEFV	608107	Familial Mediterranean Fever (AD)	134610	Released	Complete	Complete	Complete	Recurrent serositis	GroupA	Colchicine	GroupA	1	0D	2	3C	6DC
AC102	/AC102	Gene-Condition	Mon May 23 00:00:00 UTC 2016	Wed, 09 Feb 2022 13:18:27 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC102	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	MEFV	608107	Familial Mediterranean Fever (AD)	134610	Released	Complete	Complete	Complete	Amyloidosis	GroupA	Colchicine	GroupA	1	0D	2	3C	6DC
AC102	/AC102	Gene-Condition	Mon May 23 00:00:00 UTC 2016	Wed, 09 Feb 2022 13:18:27 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC102	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	MEFV	608107	Familial Mediterranean Fever (AD)	134610	Released	Complete	Complete	Complete	Joint problems	GroupA	Colchicine	GroupA	1	0D	2	3C	6DC
AC143	/AC143	Gene-Condition	Thu Jul 13 00:00:00 UTC 2017	Mon, 16 May 2022 20:06:26 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143	(ERR: Missing)	Mon, 16 May 2022 00:00:00 -0000	LMNA,EMD,FHL1	150330,300384,300163	Emery-Dreifuss Muscular Dystrophy (AD, XL)	181350,310300,300696	Released	Complete	Complete	Complete	Complications from pregnancy	GroupA	Pregnancy management	GroupA	2	0D	3	2C	7DC
AC143	/AC143	Gene-Condition	Thu Jul 13 00:00:00 UTC 2017	Mon, 16 May 2022 20:06:26 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143	(ERR: Missing)	Mon, 16 May 2022 00:00:00 -0000	LMNA,EMD,FHL1	150330,300384,300163	Emery-Dreifuss Muscular Dystrophy (AD, XL)	181350,310300,300696	Released	Complete	Complete	Complete	Scoliosis	GroupA	Glucocorticoids	GroupA	1	0D	2	2A	5DA
AC143	/AC143	Gene-Condition	Thu Jul 13 00:00:00 UTC 2017	Mon, 16 May 2022 20:06:26 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143	(ERR: Missing)	Mon, 16 May 2022 00:00:00 -0000	LMNA,EMD,FHL1	150330,300384,300163	Emery-Dreifuss Muscular Dystrophy (AD, XL)	181350,310300,300696	Released	Complete	Complete	Complete	Cerebral thromboembolism	GroupA	Antithrombotic medications	GroupA	2	0D	2	2C	6DC
AC143	/AC143	Gene-Condition	Thu Jul 13 00:00:00 UTC 2017	Mon, 16 May 2022 20:06:26 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143	(ERR: Missing)	Mon, 16 May 2022 00:00:00 -0000	LMNA,EMD,FHL1	150330,300384,300163	Emery-Dreifuss Muscular Dystrophy (AD, XL)	181350,310300,300696	Released	Complete	Complete	Complete	Arrhythmias	GroupA	Defibrillator/cardiac surveillance	GroupA	3	0D	2	2C	7DC
AC143	/AC143	Gene-Condition	Thu Jul 13 00:00:00 UTC 2017	Mon, 16 May 2022 20:06:26 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143	(ERR: Missing)	Mon, 16 May 2022 00:00:00 -0000	LMNA,EMD,FHL1	150330,300384,300163	Emery-Dreifuss Muscular Dystrophy (AD, XL)	181350,310300,300696	Released	Complete	Complete	Complete	Congestive heart failure	GroupA	Pharmacotherapy/cardiac surveillance	GroupA	2	0D	3	2C	7DC
AC143	/AC143	Gene-Condition	Thu Jul 13 00:00:00 UTC 2017	Mon, 16 May 2022 20:06:26 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143	(ERR: Missing)	Mon, 16 May 2022 00:00:00 -0000	LMNA,EMD,FHL1	150330,300384,300163	Emery-Dreifuss Muscular Dystrophy (AD, XL)	181350,310300,300696	Released	Complete	Complete	Complete	Complications from anesthesia/surgery	GroupA	Anesthesia management	GroupA	2	0D	3	2C	7DC
AC143	/AC143	Gene-Condition	Thu Jul 13 00:00:00 UTC 2017	Mon, 16 May 2022 20:06:26 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC143	(ERR: Missing)	Mon, 16 May 2022 00:00:00 -0000	LMNA,EMD,FHL1	150330,300384,300163	Emery-Dreifuss Muscular Dystrophy (AD, XL)	181350,310300,300696	Released	Complete	Complete	Complete	Morbidity due to disorders of glucose and lipid metabolism associated with partial lipodystrophy	GroupA	Metabolic evaluation	GroupA	2	0D	3	2C	7DC
AC1044	/AC1044	Gene-Condition	Thu Nov 04 00:00:00 UTC 2021	Wed, 20 Apr 2022 21:05:20 -0000	Hunter Jessica	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1044	1.0.1	Wed, 20 Apr 2022 00:00:00 -0000	COL4A5,COL4A3,COL4A4	303630,120070,120131	Alport syndrome	301050,104200,203780,203780	Released	Complete	Complete	Complete	Progression of renal disease	GroupA	Referral to a specialist for evaluation to guide treatment with angiotensin-converting enzyme inhibitors (ACEi)	GroupA	2	3C	3	2B	10CB
AC025	/AC025	Gene-Condition	Fri Jul 11 00:00:00 UTC 2014	Mon, 21 Jun 2021 20:50:47 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC025	2.1.2	Mon, 21 Jun 2021 00:00:00 -0000	PTEN	601728	PTEN Hamartoma Tumor Syndrome - Cowden Syndrome	158350	Released	Complete	Complete	Complete	Morbidity due to breast cancer	GroupA	Surveillance to detect breast tumors and guide treatment	GroupA	2	3C	3	2B	10CB
AC025	/AC025	Gene-Condition	Fri Jul 11 00:00:00 UTC 2014	Mon, 21 Jun 2021 20:50:47 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC025	2.1.2	Mon, 21 Jun 2021 00:00:00 -0000	PTEN	601728	PTEN Hamartoma Tumor Syndrome - Cowden Syndrome	158350	Released	Complete	Complete	Complete	Morbidity due to thyroid disease	GroupA	Surveillance to detect thyroid lesions and guide treatment	GroupA	2	3A	3	2C	10AC
AC066	/AC066	Gene-Condition	Mon Oct 17 00:00:00 UTC 2022	Fri, 03 Feb 2023 19:08:55 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC066	(ERR: Missing)	Fri, 03 Feb 2023 00:00:00 -0000	SMAD4,BMPR1A	600993,601299	Juvenile polyposis syndrome	174900,175050,174900	Released	Complete	Complete	Complete	Morbidity and mortality from GI neoplasia	GroupA	Evaluation and surveillance by specialist to guide treatment	GroupA	2	3C	2	2C	9CC
AC023	/AC023	Gene-Condition	Tue Mar 10 00:00:00 UTC 2015	Thu, 04 Apr 2019 16:27:37 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC023	2.0.0	Thu, 04 Apr 2019 00:00:00 -0000	SDHAF2	613019	Hereditary Paragangliomas-Pheochromocytoma Syndrome (Paragangliomas II)	(No paired disease(s) for gene)	Retracted	Complete	Complete	Complete	Paraganglioma development	N/A	Surveillance	N/A	2	2C	3	2C	9CC
AC145	/AC145	Gene-Condition	Mon Dec 23 00:00:00 UTC 2019	Sat, 06 Jan 2024 00:31:55 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC145	2.0.4	Fri, 05 Jan 2024 00:00:00 -0000	TTR	176300	Hereditary transthyretin-related amyloidosis	105210	Released	Complete	Complete	Complete	Morbidity and mortality from amyloidosis	GroupA	Referral to specialist and surveillance for amyloidosis to guide appropriate downstream treatment	GroupA	2	3C	2	2B	9CB
AC145	/AC145	Gene-Condition	Mon Dec 23 00:00:00 UTC 2019	Sat, 06 Jan 2024 00:31:55 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC145	2.0.4	Fri, 05 Jan 2024 00:00:00 -0000	TTR	176300	Hereditary transthyretin-related amyloidosis	105210	Released	Complete	Complete	Complete	Morbidity and mortality from cardiac amyloidosis	GroupA	Referral to specialist and surveillance for amyloidosis to guide appropriate downstream pharmacotherapy treatment (tafamidis)	GroupA	2	3C	3	3C	11CC
AC010	/AC010	Gene-Condition	Thu Nov 18 04:25:19 UTC 2021	Wed, 09 Feb 2022 12:23:49 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC010	1.0.1	Wed, 09 Feb 2022 00:00:00 -0000	FGF23	605380	Hypophosphatemic rickets, autosomal dominant	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1039	/AC1039	Gene-Condition	Wed May 19 00:00:00 UTC 2021	Wed, 09 Feb 2022 13:28:15 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1039	1.0.2	Wed, 09 Feb 2022 00:00:00 -0000	HADHA,HADHB	600890,143450	Disorders of the trifunctional protein complex	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC089	/AC089	Gene-Condition	Mon Feb 17 00:00:00 UTC 2025	Wed, 18 Jun 2025 22:29:47 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC089	2.0.0	Wed, 18 Jun 2025 00:00:00 -0000	COL5A1,COL5A2	120215,120190	Ehlers-Danlos syndrome, classic type	130000,130010	Released	Complete	Complete	Complete	Ehlers-Danlos syndrome, classic type-related morbidity	GroupA	Referral to specialists for symptom management and anticipatory guidance	GroupA	2	3N	3	1D	9ND
AC1080	/AC1080	Gene-Condition	Mon Oct 07 00:00:00 UTC 2024	Wed, 21 May 2025 19:14:17 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1080	1.0.0	Wed, 21 May 2025 00:00:00 -0000	FGFR3	134934	Hypochondroplasia	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC100	/AC100	Gene-Condition	Fri Mar 01 00:00:00 UTC 2019	Mon, 16 Aug 2021 21:04:50 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC100	2.1.4	Mon, 16 Aug 2021 00:00:00 -0000	FBN1	134797	Marfan Syndrome	154700	Released	Complete	Complete	Complete	Clinically significant aortic aneurysm	GroupA	Aortic surveillance	GroupA	3	3C	3	3B	12CB
AC100	/AC100	Gene-Condition	Fri Mar 01 00:00:00 UTC 2019	Mon, 16 Aug 2021 21:04:50 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC100	2.1.4	Mon, 16 Aug 2021 00:00:00 -0000	FBN1	134797	Marfan Syndrome	154700	Released	Complete	Complete	Complete	Aortic dilation progression	GroupA	Pharmacotherapy	GroupA	2	3C	3	3A	11CA
AC1019	/AC1019	Gene-Condition	Tue Jan 12 00:00:00 UTC 2021	Thu, 21 Apr 2022 16:42:17 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1019	1.0.2	Thu, 21 Apr 2022 00:00:00 -0000	SLC26A4	605646	Pendred syndrome	(No paired disease(s) for gene)	Released	Complete	Complete	Complete		N/A		N/A					
AC112	/AC112	Gene-Condition	Tue Nov 16 00:00:00 UTC 2021	Mon, 11 Apr 2022 17:54:03 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC112	2.0.0	Mon, 11 Apr 2022 00:00:00 -0000	OTC	300461	Ornithine Transcarbamylase Deficiency	311250	Released	Complete	Complete	Complete	Morbidity and mortality due to hyperammonemic crises (males)	GroupA	Referral to a specialist for evaluation, to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises	GroupA	2	3C	2	3B	10CB
AC112	/AC112	Gene-Condition	Tue Nov 16 00:00:00 UTC 2021	Mon, 11 Apr 2022 17:54:03 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC112	2.0.0	Mon, 11 Apr 2022 00:00:00 -0000	OTC	300461	Ornithine Transcarbamylase Deficiency	311250	Released	Complete	Complete	Complete	Morbidity and mortality due to hyperammonemic crises (females)	GroupA	Referral to a specialist for evaluation, to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises	GroupA	2	3D	2	3B	10DB
AC1054	/AC1054	Gene-Condition	Tue May 14 00:00:00 UTC 2024	Tue, 08 Oct 2024 12:51:05 -0000	Reynolds Elizabeth	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1054	1.0.2	Tue, 08 Oct 2024 00:00:00 -0000	BARD1	601593	Hereditary breast carcinoma	114480	Released	Complete	Complete	Complete	Morbidity and mortality from breast cancer	GroupA	Imaging surveillance to detect breast cancer	GroupA	2	2A	3	2B	9AB
AC091	/AC091	Gene-Condition	Mon Oct 17 00:00:00 UTC 2016	Wed, 09 Feb 2022 12:55:09 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC091	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	MET	164860	Familial papillary renal cell carcinoma 1	605074	Released	Complete	Complete	Complete	Morbidity/mortality associated with papillary renal cell carcinoma	GroupA	Periodic surveillance via renal CT imaging	GroupA	2	3C	2	3N	10CN
AC1046	/AC1046	Gene-Condition	Wed Mar 16 00:00:00 UTC 2022	Sun, 24 Mar 2024 15:01:57 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1046	1.0.2	Sun, 24 Mar 2024 00:00:00 -0000	CPS1	608307	Carbamoylphosphate synthetase 1 (CPS1) deficiency	237300	Released	Complete	Complete	Complete	Morbidity and mortality due to hyperammonemic crises	GroupA	Referral to a specialist for evaluation to guide dietary management, arginine/citrulline, nitrogen scavengers, and emergency management to mitigate hyperammonemic crises	GroupA	2	3D	2	2D	9DD
AC012	/AC012	Gene-Condition	Mon Feb 25 00:00:00 UTC 2019	Wed, 24 Sep 2025 21:01:20 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC012	1.1.0	Wed, 24 Sep 2025 00:00:00 -0000	RPE65	180069	Biallelic RPE65 Mutation-Associated Retinal Dystrophy	204100,613794	Released	Complete	Complete	Complete	Progression of visual impairment	GroupA	Gene therapy limited to clinically affected individuals with viable retinal cells	GroupA	2	3N	2	3N	10NN
AC146	/AC146	Gene-Condition	Mon Sep 11 00:00:00 UTC 2017	Mon, 14 Mar 2022 17:54:33 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC146	1.2.4	Mon, 14 Mar 2022 00:00:00 -0000	BMPR2	600799	Primary pulmonary hypertension 1	178600	Released	Complete	Complete	Complete	Deterioration of pulmonary and cardiac function	GroupA	Annual echocardiogram	GroupA	2	2C	3	1B	8CB
AC146	/AC146	Gene-Condition	Mon Sep 11 00:00:00 UTC 2017	Mon, 14 Mar 2022 17:54:33 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC146	1.2.4	Mon, 14 Mar 2022 00:00:00 -0000	BMPR2	600799	Primary pulmonary hypertension 1	178600	Released	Complete	Complete	Complete	Deterioration of pulmonary and cardiac function	GroupA	Pharmacotherapy	GroupA	2	2C	3	1A	8CA
AC146	/AC146	Gene-Condition	Mon Sep 11 00:00:00 UTC 2017	Mon, 14 Mar 2022 17:54:33 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC146	1.2.4	Mon, 14 Mar 2022 00:00:00 -0000	BMPR2	600799	Primary pulmonary hypertension 1	178600	Released	Complete	Complete	Complete	Deterioration of pulmonary and cardiac function	GroupA	Avoidance of exacerbating exposures	GroupA	2	2C	3	0C	7CC
AC153	/AC153	Gene-Condition	Thu Jul 19 00:00:00 UTC 2018	Wed, 09 Feb 2022 13:59:12 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC153	1.2.3	Wed, 09 Feb 2022 00:00:00 -0000	F11	264900	Factor XI Deficiency	612416	Released	Complete	Complete	Complete	Bleeding complications with pregnancy, procedures or trauma	GroupA	Development and implementation of comprehensive management plan based on activity levels and bleeding history by hematology team	GroupA	2	2C	3	3N	10CN
AC097	/AC097	Gene-Condition	Fri Jun 23 00:00:00 UTC 2023	Fri, 06 Oct 2023 17:08:00 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC097	2.0.0	Fri, 06 Oct 2023 00:00:00 -0000	CBS	613381	Cystathionine Beta-Synthase Deficiency	236200	Released	Complete	Complete	Complete	CBS deficiency-related morbidity and mortality from elevated blood homocysteine levels	GroupA	Evaluation and management by specialists to achieve and maintain target homocysteine levels	GroupA	2	3C	2	3C	10CC
AC097	/AC097	Gene-Condition	Fri Jun 23 00:00:00 UTC 2023	Fri, 06 Oct 2023 17:08:00 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC097	2.0.0	Fri, 06 Oct 2023 00:00:00 -0000	CBS	613381	Cystathionine Beta-Synthase Deficiency	236200	Released	Complete	Complete	Complete	Morbidity and mortality from thromboembolism	GroupA	Prophylactic anti-thrombotic measures when warranted (e.g., pregnancy, immobility)	GroupA	2	2D	3	2C	9DC
AC026	/AC026	Gene-Condition	Fri Dec 17 00:00:00 UTC 2021	Tue, 21 Feb 2023 12:48:55 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC026	1.1.4	Tue, 21 Feb 2023 00:00:00 -0000	TSC1,TSC2	191100,613254	Tuberous Sclerosis Complex (TSC)	191100,613254	Released	Complete	Complete	Complete	Morbidity and mortality from TSC-related lesions	GroupA	Evaluation by specialist with imaging to guide possible use of mTORi therapy	GroupA	2	3C	2	2B	9CB
AC048	/AC048	Gene-Condition	Tue Oct 01 00:00:00 UTC 2019	Wed, 09 Feb 2022 12:38:00 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC048	3.0.5	Wed, 09 Feb 2022 00:00:00 -0000	APC	611731	Familial Adenomatous Polyposis	175100	Released	Complete	Complete	Complete	Morbidity and mortality due to colorectal cancer	GroupA	Colonoscopic surveillance to determine polyp burden and guide (if appropriate) timing of (procto) colectomy	GroupA	2	3C	2	3B	10CB
AC048	/AC048	Gene-Condition	Tue Oct 01 00:00:00 UTC 2019	Wed, 09 Feb 2022 12:38:00 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC048	3.0.5	Wed, 09 Feb 2022 00:00:00 -0000	APC	611731	Familial Adenomatous Polyposis	175100	Released	Complete	Complete	Complete	Morbidity and mortality due to advanced-stage thyroid cancer	GroupA	Annual physical examination with possible ultrasound to detect thyroid cancer and guide thyroid cancer treatment	GroupA	2	1A	3	2D	8AD
AC048	/AC048	Gene-Condition	Tue Oct 01 00:00:00 UTC 2019	Wed, 09 Feb 2022 12:38:00 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC048	3.0.5	Wed, 09 Feb 2022 00:00:00 -0000	APC	611731	Familial Adenomatous Polyposis	175100	Released	Complete	Complete	Complete	Morbidity and mortality due to upper GI (stomach and duodenum) cancer	GroupA	Periodic upper endoscopy to detect upper GI cancers or precursors and guide treatment	GroupA	2	2C	2	2A	8CA
AC118	/AC118	Gene-Condition	Mon Aug 12 00:00:00 UTC 2024	Thu, 05 Dec 2024 19:15:30 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC118	1.3.0	Thu, 05 Dec 2024 00:00:00 -0000	SLC25A13	603859	Citrin Deficiency	603471	Released	Complete	Complete	Complete	Morbidity and mortality due to hepatic dysfunction in the context of citrin deficiency	GroupA	Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, emergency planning, and possible transplant	GroupA	2	0D	2	3N	7DN
AC136	/AC136	Gene-Condition	Fri Mar 17 00:00:00 UTC 2017	Wed, 08 Apr 2020 18:59:41 -0000	Mittendorf Kathleen	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC136	1.1.1	Wed, 08 Apr 2020 00:00:00 -0000	RAD51C,RAD51D,BRIP1	602774,602954,605882	Ovarian cancer	613399,614291,114480	Released	Complete	Complete	Complete	Ovarian cancer	GroupA	Oophorectomy	GroupA	2	1C	1	3B	7CB
AC1043	/AC1043	Gene-Condition	Wed Aug 18 00:00:00 UTC 2021	Thu, 20 Oct 2022 16:13:27 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1043	1.0.2	Thu, 20 Oct 2022 00:00:00 -0000	G6PD	305900	Glucose-6-phosphate dehydrogenase deficiency	305900	Released	Complete	Complete	Complete	Morbidity and mortality associated with hemolysis	GroupA	Education and clinical management (eg - enzyme testing prior to surgery) to avoid substances or situations that can induce hemolysis	GroupA	2	0D	3	0D	5DD
AC063	/AC063	Gene-Condition	Mon Jul 08 00:00:00 UTC 2024	Tue, 29 Oct 2024 18:23:46 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC063	3.0.0	Tue, 29 Oct 2024 00:00:00 -0000	PMP22	601097	Hereditary Neuropathy with Liability to Pressure Palsies	162500	Released	Complete	Complete	Complete	Progression of neuropathy	GroupA	Avoidance of triggers and neurotoxic drugs	GroupA	1	3C	3	1N	8CN
AC128	/AC128	Gene-Condition	Wed Jan 15 00:00:00 UTC 2025	Fri, 09 May 2025 15:56:14 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC128	2.0.0	Fri, 09 May 2025 00:00:00 -0000	GCH1	600225	GCH-1 associated dopa-responsive dystonia	128230	Released	Complete	Complete	Complete	Neuromuscular dysfunction	GroupA	Surveillance by specialist to guide levodopa and decarboxylase inhibitor therapy	GroupA	1	3C	3	3C	10CC
AC041	/AC041	Gene-Condition	Wed Mar 22 00:00:00 UTC 2023	Mon, 08 Jan 2024 23:26:41 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC041	2.0.1	Mon, 08 Jan 2024 00:00:00 -0000	FLCN	607273	Birt-Hogg-Dubé syndrome	135150	Released	Complete	Complete	Complete	Morbidity and mortality from renal tumors	GroupA	Evaluation by specialist with imaging to detect renal tumors and guide treatment.	GroupA	2	2A	3	2C	9AC
AC041	/AC041	Gene-Condition	Wed Mar 22 00:00:00 UTC 2023	Mon, 08 Jan 2024 23:26:41 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC041	2.0.1	Mon, 08 Jan 2024 00:00:00 -0000	FLCN	607273	Birt-Hogg-Dubé syndrome	135150	Released	Complete	Complete	Complete	Morbidity and mortality from pneumothorax	GroupA	Anticipatory guidance regarding risk of pneumothorax including need for prompt intervention and imaging before anesthesia	GroupA	2	3A	3	0D	8AD
AC039	/AC039	Gene-Condition	Tue Mar 17 00:00:00 UTC 2020	Wed, 09 Feb 2022 12:31:16 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC039	2.0.2	Wed, 09 Feb 2022 00:00:00 -0000	PKP2,DSP,DSC2,TMEM43,DSG2,JUP	602861,125647,125645,612048,125671,173325	Arrhythmogenic Right Ventricular Dysplasia	609040,607450,610476,604400,610193,611528	Released	Complete	Complete	Complete	Sudden cardiac death	GroupA	Surveillance to detect disease manifestations [cardiac arrhythmias and structural disease] to guide treatment including antiarrhythmic medications	GroupA	3	1C	3	2A	9CA
AC108	/AC108	Gene-Condition	Tue Sep 19 00:00:00 UTC 2017	Fri, 19 Sep 2025 19:31:21 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC108	2.3.0	Fri, 19 Sep 2025 00:00:00 -0000	PALB2	610355	PALB2-related cancers	620442	Released	Complete	Complete	Complete	Breast cancer	GroupA	Chemoprevention	GroupA	2	2C	2	2B	8CB
AC108	/AC108	Gene-Condition	Tue Sep 19 00:00:00 UTC 2017	Fri, 19 Sep 2025 19:31:21 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC108	2.3.0	Fri, 19 Sep 2025 00:00:00 -0000	PALB2	610355	PALB2-related cancers	620442	Released	Complete	Complete	Complete	Breast cancer	GroupA	Mastectomy	GroupA	2	2C	1	3B	8CB
AC108	/AC108	Gene-Condition	Tue Sep 19 00:00:00 UTC 2017	Fri, 19 Sep 2025 19:31:21 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC108	2.3.0	Fri, 19 Sep 2025 00:00:00 -0000	PALB2	610355	PALB2-related cancers	620442	Released	Complete	Complete	Complete	Breast cancer	GroupA	Breast cancer surveillance	GroupA	2	2C	3	2B	9CB
AC103	/AC103	Gene-Condition	Tue Jun 04 00:00:00 UTC 2019	Wed, 20 Dec 2023 18:07:50 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC103	1.1.4	Wed, 20 Dec 2023 00:00:00 -0000	CDH1	192090	Hereditary Diffuse Gastric Cancer	137215	Released	Complete	Complete	Complete	Mortality from gastric cancer	GroupA	Risk reducing gastrectomy	GroupA	2	3C	0	3B	8CB
AC103	/AC103	Gene-Condition	Tue Jun 04 00:00:00 UTC 2019	Wed, 20 Dec 2023 18:07:50 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC103	1.1.4	Wed, 20 Dec 2023 00:00:00 -0000	CDH1	192090	Hereditary Diffuse Gastric Cancer	137215	Released	Complete	Complete	Complete	Mortality from gastric cancer	GroupA	Endoscopic surveillance to detect gastric cancer or precursors and guide gastric cancer treatment and/or gastrectomy	GroupA	2	3C	2	1C	8CC
AC103	/AC103	Gene-Condition	Tue Jun 04 00:00:00 UTC 2019	Wed, 20 Dec 2023 18:07:50 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC103	1.1.4	Wed, 20 Dec 2023 00:00:00 -0000	CDH1	192090	Hereditary Diffuse Gastric Cancer	137215	Released	Complete	Complete	Complete	Mortality from breast cancer	GroupA	Imaging surveillance to detect breast cancer and guide initiation of breast cancer treatment	GroupA	2	3C	3	2C	10CC
AC103	/AC103	Gene-Condition	Tue Jun 04 00:00:00 UTC 2019	Wed, 20 Dec 2023 18:07:50 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC103	1.1.4	Wed, 20 Dec 2023 00:00:00 -0000	CDH1	192090	Hereditary Diffuse Gastric Cancer	137215	Released	Complete	Complete	Complete	Mortality from breast cancer	GroupA	Risk reducing mastectomy	GroupA	2	3C	1	3D	9CD
AC087	/AC087	Gene-Condition	Mon Nov 07 00:00:00 UTC 2022	Tue, 07 Mar 2023 17:37:31 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC087	2.0.0	Tue, 07 Mar 2023 00:00:00 -0000	PTCH1	601309	Basal Cell Nevus Syndrome (BCNS)	109400	Released	Complete	Complete	Complete	Morbidity from basal cell carcinomas	GroupA	Avoidance of sun exposure and radiation	GroupA	1	3C	3	0D	7CD
AC087	/AC087	Gene-Condition	Mon Nov 07 00:00:00 UTC 2022	Tue, 07 Mar 2023 17:37:31 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC087	2.0.0	Tue, 07 Mar 2023 00:00:00 -0000	PTCH1	601309	Basal Cell Nevus Syndrome (BCNS)	109400	Released	Complete	Complete	Complete	Morbidity from neoplasia	GroupA	Evaluation and surveillance by specialists to detect neoplasia and guide treatment	GroupA	1	3C	3	0D	7CD
AC001	/AC001	Gene-Condition	Mon Apr 30 00:00:00 UTC 2018	Wed, 09 Feb 2022 12:18:48 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC001	1.0.2	Wed, 09 Feb 2022 00:00:00 -0000	RB1	614041	Retinoblastoma	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1001	/AC1001	Gene-Condition	Mon Dec 17 00:00:00 UTC 2018	Wed, 09 Feb 2022 13:00:45 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1001	1.1.3	Wed, 09 Feb 2022 00:00:00 -0000	IDS	300823	Mucopolysaccharidosis Type II	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC040	/AC040	Gene-Condition	Thu Oct 10 00:00:00 UTC 2019	Wed, 09 Feb 2022 12:32:31 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC040	2.0.3	Wed, 09 Feb 2022 00:00:00 -0000	SCN5A	600163	Brugada Syndrome	601144	Released	Complete	Complete	Complete	Sudden cardiac death	GroupA	Avoidance of drugs with sodium channel blocking properties and high fever	GroupA	3	2C	3	2B	10CB
AC081	/AC081	Gene-Condition	Wed Mar 06 00:00:00 UTC 2019	Wed, 09 Feb 2022 12:51:51 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC081	2.1.3	Wed, 09 Feb 2022 00:00:00 -0000	RET	164761	Multiple Endocrine Neoplasia Type IIB	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC126	/AC126	Gene-Condition	Sat Mar 08 00:00:00 UTC 2025	Wed, 13 Aug 2025 22:58:40 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC126	2.0.0	Wed, 13 Aug 2025 00:00:00 -0000	ACADVL	609575	Very Long Chain Actyl-CoA Dehydrogenase Deficiency (VLCAD)	201475	Released	Complete	Complete	Complete	Morbidity and mortality due to VLCAD deficiency	GroupA	Surveillance by specialists to guide management, including diet, emergency planning, triheptanoin therapy, and prevention of secondary complications	GroupA	2	0D	2	2C	6DC
AC133	/AC133	Gene-Condition	Tue Jan 28 00:00:00 UTC 2014	Thu, 14 Aug 2025 23:31:35 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC133	1.1.7	Thu, 14 Aug 2025 00:00:00 -0000	BRCA1,BRCA2	113705,600185	Hereditary Breast and Ovarian Cancer	604370,612555	Released	Complete	Complete	Complete	Breast Cancer (BRCA1)	GroupA	Surveillance	GroupA	2	3A	3	2A	10AA
AC133	/AC133	Gene-Condition	Tue Jan 28 00:00:00 UTC 2014	Thu, 14 Aug 2025 23:31:35 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC133	1.1.7	Thu, 14 Aug 2025 00:00:00 -0000	BRCA1,BRCA2	113705,600185	Hereditary Breast and Ovarian Cancer	604370,612555	Released	Complete	Complete	Complete	Breast Cancer (BRCA1)	GroupA	Mastectomy	GroupA	2	3A	1	3A	9AA
AC133	/AC133	Gene-Condition	Tue Jan 28 00:00:00 UTC 2014	Thu, 14 Aug 2025 23:31:35 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC133	1.1.7	Thu, 14 Aug 2025 00:00:00 -0000	BRCA1,BRCA2	113705,600185	Hereditary Breast and Ovarian Cancer	604370,612555	Released	Complete	Complete	Complete	Ovarian Cancer (BRCA1)	GroupA	Oophorectomy	GroupA	2	2A	1	3A	8AA
AC133	/AC133	Gene-Condition	Tue Jan 28 00:00:00 UTC 2014	Thu, 14 Aug 2025 23:31:35 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC133	1.1.7	Thu, 14 Aug 2025 00:00:00 -0000	BRCA1,BRCA2	113705,600185	Hereditary Breast and Ovarian Cancer	604370,612555	Released	Complete	Complete	Complete	Breast Cancer (BRCA2)	GroupA	Surveillance	GroupA	2	3A	3	2A	10AA
AC133	/AC133	Gene-Condition	Tue Jan 28 00:00:00 UTC 2014	Thu, 14 Aug 2025 23:31:35 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC133	1.1.7	Thu, 14 Aug 2025 00:00:00 -0000	BRCA1,BRCA2	113705,600185	Hereditary Breast and Ovarian Cancer	604370,612555	Released	Complete	Complete	Complete	Breast Cancer (BRCA2)	GroupA	Mastectomy	GroupA	2	3A	1	3A	9AA
AC133	/AC133	Gene-Condition	Tue Jan 28 00:00:00 UTC 2014	Thu, 14 Aug 2025 23:31:35 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC133	1.1.7	Thu, 14 Aug 2025 00:00:00 -0000	BRCA1,BRCA2	113705,600185	Hereditary Breast and Ovarian Cancer	604370,612555	Released	Complete	Complete	Complete	Ovarian Cancer (BRCA2)	GroupA	Oophorectomy	GroupA	2	2A	1	3A	8AA
AC149	/AC149	Gene-Condition	Fri Nov 10 00:00:00 UTC 2017	Sun, 24 Mar 2024 15:04:00 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC149	1.3.4	Sun, 24 Mar 2024 00:00:00 -0000	F5	612309	F5: Factor V deficiency (AR)	227400	Released	Incomplete	Complete	Complete	Severe or prolonged hemorrhage	GroupA	Development and implementation of comprehensive management plan based on activity levels	GroupA	2	3N	2	3B	10NB
AC037	/AC037	Gene-Condition	Mon Nov 05 00:00:00 UTC 2018	Wed, 09 Feb 2022 12:30:36 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC037	2.1.3	Wed, 09 Feb 2022 00:00:00 -0000	DNAJB11,GANAB,PKD1,PKD2	611341,104160,601313,173910	Autosomal Dominant Polycystic Kidney Disease	618061,600666,173900,613095	Released	Complete	Complete	Complete	Progression to ESRD	GroupA	Pharmacologic management of renal function	GroupA	2	3C	2	2A	9CA
AC037	/AC037	Gene-Condition	Mon Nov 05 00:00:00 UTC 2018	Wed, 09 Feb 2022 12:30:36 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC037	2.1.3	Wed, 09 Feb 2022 00:00:00 -0000	DNAJB11,GANAB,PKD1,PKD2	611341,104160,601313,173910	Autosomal Dominant Polycystic Kidney Disease	618061,600666,173900,613095	Released	Complete	Complete	Complete	Neurologic disability or death due to ICA	GroupA	ICA surveillance	GroupA	3	0A	3	1B	7AB
AC037	/AC037	Gene-Condition	Mon Nov 05 00:00:00 UTC 2018	Wed, 09 Feb 2022 12:30:36 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC037	2.1.3	Wed, 09 Feb 2022 00:00:00 -0000	DNAJB11,GANAB,PKD1,PKD2	611341,104160,601313,173910	Autosomal Dominant Polycystic Kidney Disease	618061,600666,173900,613095	Released	Complete	Complete	Complete	Morbidity due to thoracic aortic disease	GroupA	TAAD surveillance to guide surgical intervention	GroupA	3	0D	3	2C	8DC
AC1016	/AC1016	Gene-Condition	Mon Aug 03 00:00:00 UTC 2020	Mon, 16 Oct 2023 20:13:06 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1016	1.0.0	Mon, 16 Oct 2023 00:00:00 -0000	ACADM	607008	Medium-chain acyl coenzyme A dehydrogenase deficiency	201450	Released	Complete	Complete	Complete	Morbidity and mortality associated with metabolic decompensation	GroupA	Metabolic management (dietary management and illness protocols)	GroupA	2	2C	3	3B	10CB
AC105	/AC105	Gene-Condition	Mon Apr 04 00:00:00 UTC 2016	Mon, 21 Nov 2022 22:04:16 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC105	1.3.3	Mon, 21 Nov 2022 00:00:00 -0000	F5	612309	Factor V Leiden, Homozygous (also includes  compound heterozygous FVL + prothrombin G20210A)	188055	Released	Incomplete	Complete	Complete	VTE	GroupA	Assessment for VTE risk factors	GroupA	2	2C	Not Scored	IN	IN
AC105	/AC105	Gene-Condition	Mon Apr 04 00:00:00 UTC 2016	Mon, 21 Nov 2022 22:04:16 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC105	1.3.3	Mon, 21 Nov 2022 00:00:00 -0000	F5	612309	Factor V Leiden, Homozygous (also includes  compound heterozygous FVL + prothrombin G20210A)	188055	Released	Incomplete	Complete	Complete	VTE	GroupA	Avoid estrogen-containing compounds that exacerbate VTE risk	GroupA	2	2C	3	2D	9CD
AC105	/AC105	Gene-Condition	Mon Apr 04 00:00:00 UTC 2016	Mon, 21 Nov 2022 22:04:16 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC105	1.3.3	Mon, 21 Nov 2022 00:00:00 -0000	F5	612309	Factor V Leiden, Homozygous (also includes  compound heterozygous FVL + prothrombin G20210A)	188055	Released	Incomplete	Complete	Complete	VTE	GroupA	Pharmacological prophylaxis for pregnant women	GroupA	2	2C	2	2B	8CB
AC105	/AC105	Gene-Condition	Mon Apr 04 00:00:00 UTC 2016	Mon, 21 Nov 2022 22:04:16 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC105	1.3.3	Mon, 21 Nov 2022 00:00:00 -0000	F5	612309	Factor V Leiden, Homozygous (also includes  compound heterozygous FVL + prothrombin G20210A)	188055	Released	Incomplete	Complete	Complete	VTE	GroupA	Pharmacological prophylaxis for men and non-pregnant women	GroupA	2	2C	2	0D	6CD
AC151	/AC151	Gene-Condition	Wed May 09 00:00:00 UTC 2018	Wed, 09 Feb 2022 13:58:06 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC151	1.2.4	Wed, 09 Feb 2022 00:00:00 -0000	CYP21A2	613815	Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency	201910	Released	Complete	Complete	Complete	Infertility/subfertility in females	GroupA	Glucocorticoid therapy	GroupA	1	3C	2	1B	7CB
AC1047	/AC1047	Gene-Condition	Mon May 02 00:00:00 UTC 2022	Mon, 19 Sep 2022 21:12:39 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1047	1.0.0	Mon, 19 Sep 2022 00:00:00 -0000	SLC22A5	603377	Systemic primary carnitine deficiency disease (SPCD)	212140	Released	Complete	Complete	Complete	Morbidity and mortality from carnitine deficiency	GroupB	Evaluation by a specialist to guide treatment with levocarnitine supplementation and an illness management protocol	GroupB	1	2D	3	3C	9DC
AC156	/AC156	Gene-Condition	Wed Oct 03 00:00:00 UTC 2018	Thu, 04 May 2023 22:44:33 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC156	1.2.4	Thu, 04 May 2023 00:00:00 -0000	HGD	607474	Alkaptonuria	203500	Released	Incomplete	Complete	Complete	Aortic/cardiac disease	GroupA	Cardiology follow-up with periodic echocardiogram	GroupA	2	3N	3	1C	9NC
AC077	/AC077	Gene-Condition	Thu Jun 04 00:00:00 UTC 2015	Wed, 09 Feb 2022 12:50:03 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC077	2.2.4	Wed, 09 Feb 2022 00:00:00 -0000	MEN1	613733	Multiple Endocrine Neoplasia Type I	131100	Released	Complete	Complete	Complete	Morbidity from parathyroid adenoma	GroupA	Biochemical surveillance to guide parathyroidectomy decision	GroupA	2	3C	3	3B	11CB
AC077	/AC077	Gene-Condition	Thu Jun 04 00:00:00 UTC 2015	Wed, 09 Feb 2022 12:50:03 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC077	2.2.4	Wed, 09 Feb 2022 00:00:00 -0000	MEN1	613733	Multiple Endocrine Neoplasia Type I	131100	Released	Complete	Complete	Complete	Morbidity from other MEN1-related tumors	GroupA	Biochemical surveillance	GroupA	2	3C	3	2B	10CB
AC077	/AC077	Gene-Condition	Thu Jun 04 00:00:00 UTC 2015	Wed, 09 Feb 2022 12:50:03 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC077	2.2.4	Wed, 09 Feb 2022 00:00:00 -0000	MEN1	613733	Multiple Endocrine Neoplasia Type I	131100	Released	Complete	Complete	Complete	Morbidity from other MEN1-related tumors	GroupA	Imaging surveillance	GroupA	2	3C	3	3B	11CB
AC1081	/AC1081	Gene-Condition	Fri Nov 08 00:00:00 UTC 2024	Fri, 23 May 2025 17:43:12 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1081	1.0.0	Fri, 23 May 2025 00:00:00 -0000	HBB	141900	Sickle Cell Anemia	603903	Released	Complete	Complete	Complete	Morbidity and mortality from pneumococcal infection	GroupA	Vaccination and initiation of prophylactic care	GroupA	2	2D	3	3B	10DB
AC1081	/AC1081	Gene-Condition	Fri Nov 08 00:00:00 UTC 2024	Fri, 23 May 2025 17:43:12 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1081	1.0.0	Fri, 23 May 2025 00:00:00 -0000	HBB	141900	Sickle Cell Anemia	603903	Released	Complete	Complete	Complete	Morbidity and mortality from vaso-occlusive crises (including acute chest syndrome)	GroupA	Anticipatory guidance and prompt treatment of crises	GroupA	2	3A	2	3A	10AA
AC069	/AC069	Gene-Condition	Wed Feb 11 00:00:00 UTC 2015	Wed, 28 Jun 2023 17:14:24 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC069	1.1.5	Wed, 28 Jun 2023 00:00:00 -0000	MLH1,MSH2,MSH6,PMS2,EPCAM	120436,609309,600678,600259,185535	Lynch Syndrome	609310,120435,614350,614337,613244	Released	Complete	Complete	Complete	Colorectal cancer	GroupA	Surveillance	GroupA	2	3A	2	3A	10AA
AC069	/AC069	Gene-Condition	Wed Feb 11 00:00:00 UTC 2015	Wed, 28 Jun 2023 17:14:24 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC069	1.1.5	Wed, 28 Jun 2023 00:00:00 -0000	MLH1,MSH2,MSH6,PMS2,EPCAM	120436,609309,600678,600259,185535	Lynch Syndrome	609310,120435,614350,614337,613244	Released	Complete	Complete	Complete	Endometrial Cancer	GroupA	Surveillance	GroupA	2	3A	2	1A	8AA
AC069	/AC069	Gene-Condition	Wed Feb 11 00:00:00 UTC 2015	Wed, 28 Jun 2023 17:14:24 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC069	1.1.5	Wed, 28 Jun 2023 00:00:00 -0000	MLH1,MSH2,MSH6,PMS2,EPCAM	120436,609309,600678,600259,185535	Lynch Syndrome	609310,120435,614350,614337,613244	Released	Complete	Complete	Complete	Endometrial Cancer	GroupA	Risk Reducing Surgery	GroupA	2	3A	1	3B	9AB
AC116	/AC116	Gene-Condition	Tue Jul 29 00:00:00 UTC 2025	Mon, 17 Nov 2025 23:37:50 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC116	2.0.0	Mon, 17 Nov 2025 00:00:00 -0000	KRIT1,CCM2,PDCD10	604214,607929,609118	Cerebral cavernous malformations 1, 2, and 3	116860,603284,603258	Released	Complete	Complete	Complete	Morbidity and mortality due to familial cerebral cavernous malformation-related complications including hemorrhage	GroupA	Referral to specialist to guide MRI surveillance and treatment (surgery and/or pharmacotherapy)	GroupA	2	2D	2	1D	7DD
AC003	/AC003	Gene-Condition	NA	Wed, 09 Feb 2022 12:20:29 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC003	1.0.1	Wed, 09 Feb 2022 00:00:00 -0000	WT1	607102	Wilms tumor	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC119	/AC119	Gene-Condition	Tue Nov 28 00:00:00 UTC 2023	Tue, 14 May 2024 18:48:26 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC119	2.0.0	Tue, 14 May 2024 00:00:00 -0000	CDC73	607393	CDC73-Related Conditions	145000,145001,608266	Released	Complete	Complete	Complete	Morbidity from parathyroid neoplasia	GroupA	Evaluation and management by specialists, including biochemical and imaging surveillance to guide surgery	GroupA	2	2C	2	3C	9CC
AC119	/AC119	Gene-Condition	Tue Nov 28 00:00:00 UTC 2023	Tue, 14 May 2024 18:48:26 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC119	2.0.0	Tue, 14 May 2024 00:00:00 -0000	CDC73	607393	CDC73-Related Conditions	145000,145001	Released	Complete	Complete	Complete	Morbidity from CDC73-related non-parathyroid lesions	GroupB	Evaluation and management by specialists, including imaging surveillance to guide surgery	GroupB	2	2C	2	0D	6CD
AC002	/AC002	Gene-Condition	Wed May 29 00:00:00 UTC 2019	Wed, 29 Apr 2020 23:28:32 -0000	Mittendorf Kathleen	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC002	1.0.0	Wed, 29 Apr 2020 00:00:00 -0000	DICER1	606241	DICER1-Related Disorders	138800,180295,601200	Released	Complete	Complete	Complete	Morbidity and mortality from thyroid carcinoma and other DICER-related cancers	GroupA	Surveillance	GroupA	2	2N	2	2D	8ND
AC057	/AC057	Gene-Condition	Tue May 08 00:00:00 UTC 2018	Wed, 28 Jun 2023 17:14:00 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC057	3.0.4	Wed, 28 Jun 2023 00:00:00 -0000	LDLR,APOB,PCSK9	606945,107730,607786	Heterozygous Familial Hypercholesterolemia	143890,144010,603776	Released	Complete	Complete	Complete	Clinical cardiovascular events	GroupA	Lipid lowering therapy to FH appropriate LDL-C goal	GroupA	2	3C	3	2B	10CB
AC107	/AC107	Gene-Condition	Fri Aug 26 00:00:00 UTC 2022	Sun, 24 Mar 2024 15:03:07 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC107	2.0.2	Sun, 24 Mar 2024 00:00:00 -0000	ENG,ACVRL1,SMAD4	131195,601284,600993	Hereditary Hemorrhagic Telangiectasia	187300,600376,175050	Released	Complete	Complete	Complete	Morbidity and mortality from AVMs	GroupB	Evaluation and surveillance by specialist to guide treatment	GroupB	2	3N	2	2B	9NB
AC1014	/AC1014	Gene-Condition	Mon Jun 29 00:00:00 UTC 2020	Wed, 09 Feb 2022 13:12:57 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1014	1.0.2	Wed, 09 Feb 2022 00:00:00 -0000	OAT	613349	Gyrate Atrophy	258870	Released	Complete	Complete	Complete	Progression of visual impairment	GroupA	Dietary modification	GroupA	2	3C	3	2C	10CC
AC121	/AC121	Gene-Condition	Mon Mar 06 00:00:00 UTC 2017	Sun, 24 Mar 2024 15:03:44 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC121	1.2.3	Sun, 24 Mar 2024 00:00:00 -0000	PYGM	608455	Glycogen Storage Disease V	232600	Released	Complete	Complete	Complete	Rhabdomyolysis, muscle damage, and fixed contractions	GroupA	Training for an appropriate exercise regimen	GroupA	1	3N	3	2C	9NC
AC004	/AC004	Gene-Condition	Thu Jan 09 00:00:00 UTC 2025	Wed, 21 May 2025 19:07:23 -0000	Gilmore Mari	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC004	1.0.0	Wed, 21 May 2025 00:00:00 -0000	ALPL	171760	Hypophosphatasia	241500,241510,146300	Released	Complete	Complete	Complete	Morbidity from hypophosphatasia	GroupC	Referral to specialist for management including enzyme replacement therapy as appropriate.	GroupC	1	3N	2	2D	8ND
AC144	/AC144	Gene-Condition	Mon Jul 10 00:00:00 UTC 2017	Wed, 08 Apr 2020 20:06:58 -0000	Goddard Katrina	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC144	1.1.1	Wed, 08 Apr 2020 00:00:00 -0000	VWF	613160	von Willebrand Disease	277480	Released	Complete	Complete	Complete	Bleeding complications	GroupB	Pharmacological intervention for scheduled procedures	GroupB	2	3C	2	3A	10CA
AC144	/AC144	Gene-Condition	Mon Jul 10 00:00:00 UTC 2017	Wed, 08 Apr 2020 20:06:58 -0000	Goddard Katrina	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC144	1.1.1	Wed, 08 Apr 2020 00:00:00 -0000	VWF	613160	von Willebrand Disease	277480	Released	Complete	Complete	Complete	Bleeding complications	GroupB	Anti-hemorrhagic interventions in trauma settings	GroupB	2	3C	2	3A	10CA
AC144	/AC144	Gene-Condition	Mon Jul 10 00:00:00 UTC 2017	Wed, 08 Apr 2020 20:06:58 -0000	Goddard Katrina	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC144	1.1.1	Wed, 08 Apr 2020 00:00:00 -0000	VWF	613160	von Willebrand Disease	193400,613554	Released	Complete	Complete	Complete	Bleeding complications	GroupA	Pharmacological intervention for scheduled procedures	GroupA	2	3C	2	3A	10CA
AC144	/AC144	Gene-Condition	Mon Jul 10 00:00:00 UTC 2017	Wed, 08 Apr 2020 20:06:58 -0000	Goddard Katrina	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC144	1.1.1	Wed, 08 Apr 2020 00:00:00 -0000	VWF	613160	von Willebrand Disease	193400,613554	Released	Complete	Complete	Complete	Bleeding complications	GroupA	Anti-hemorrhagic interventions in trauma settings	GroupA	2	3C	2	3A	10CA
AC144	/AC144	Gene-Condition	Mon Jul 10 00:00:00 UTC 2017	Wed, 08 Apr 2020 20:06:58 -0000	Goddard Katrina	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC144	1.1.1	Wed, 08 Apr 2020 00:00:00 -0000	VWF	613160	von Willebrand Disease	277480	Released	Complete	Complete	Complete	Clinically significant bleeding	GroupB	Pharmacological prophylaxis	GroupB	2	3C	2	2B	9CB
AC144	/AC144	Gene-Condition	Mon Jul 10 00:00:00 UTC 2017	Wed, 08 Apr 2020 20:06:58 -0000	Goddard Katrina	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC144	1.1.1	Wed, 08 Apr 2020 00:00:00 -0000	VWF	613160	von Willebrand Disease	193400,613554	Released	Complete	Complete	Complete	Clinically significant bleeding	GroupA	Pharmacological prophylaxis	GroupA	1	3C	2	0B	6CB
AC090	/AC090	Gene-Condition	Fri May 12 00:00:00 UTC 2023	Sun, 24 Mar 2024 15:01:05 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC090	1.2.6	Sun, 24 Mar 2024 00:00:00 -0000	GAA	606800	Glycogen Storage Disease 2	232300	Released	Complete	Complete	Complete	Morbidity and mortality due to acid alpha-glucosidase deficiency	GroupA	Evaluation by specialists to guide management including enzyme replacement therapy	GroupA	2	3C	2	2A	9CA
AC047	/AC047	Gene-Condition	Wed Dec 11 00:00:00 UTC 2019	Wed, 09 Feb 2022 12:36:33 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC047	3.0.3	Wed, 09 Feb 2022 00:00:00 -0000	GLA	300644	Fabry Disease	301500	Released	Complete	Complete	Complete	Cardiovascular disease (males)	GroupA	Enzyme replacement therapy (ERT) with agalsidase alpha or beta	GroupA	2	3C	2	1D	8CD
AC047	/AC047	Gene-Condition	Wed Dec 11 00:00:00 UTC 2019	Wed, 09 Feb 2022 12:36:33 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC047	3.0.3	Wed, 09 Feb 2022 00:00:00 -0000	GLA	300644	Fabry Disease	301500	Released	Complete	Complete	Complete	Cardiovascular disease (females)	GroupA	Enzyme replacement therapy (ERT) with agalsidase alpha or beta	GroupA	2	2C	2	1D	7CD
AC047	/AC047	Gene-Condition	Wed Dec 11 00:00:00 UTC 2019	Wed, 09 Feb 2022 12:36:33 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC047	3.0.3	Wed, 09 Feb 2022 00:00:00 -0000	GLA	300644	Fabry Disease	301500	Released	Complete	Complete	Complete	Cerebrovascular events (males)	GroupA	Enzyme replacement therapy (ERT) with agalsidase alpha or beta	GroupA	2	2C	2	1D	7CD
AC047	/AC047	Gene-Condition	Wed Dec 11 00:00:00 UTC 2019	Wed, 09 Feb 2022 12:36:33 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC047	3.0.3	Wed, 09 Feb 2022 00:00:00 -0000	GLA	300644	Fabry Disease	301500	Released	Complete	Complete	Complete	Cerebrovascular events (females)	GroupA	Enzyme replacement therapy (ERT) with agalsidase alpha or beta	GroupA	2	2C	2	1D	7CD
AC047	/AC047	Gene-Condition	Wed Dec 11 00:00:00 UTC 2019	Wed, 09 Feb 2022 12:36:33 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC047	3.0.3	Wed, 09 Feb 2022 00:00:00 -0000	GLA	300644	Fabry Disease	301500	Released	Complete	Complete	Complete	End-stage renal disease (males)	GroupA	Enzyme replacement therapy (ERT) with agalsidase alpha or beta	GroupA	2	2C	2	1D	7CD
AC047	/AC047	Gene-Condition	Wed Dec 11 00:00:00 UTC 2019	Wed, 09 Feb 2022 12:36:33 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC047	3.0.3	Wed, 09 Feb 2022 00:00:00 -0000	GLA	300644	Fabry Disease	301500	Released	Complete	Complete	Complete	End-stage renal disease (females)	GroupA	Enzyme replacement therapy (ERT) with agalsidase alpha or beta	GroupA	2	1C	2	1D	6CD
AC1065	/AC1065	Variant-Condition	Fri May 24 00:00:00 UTC 2024	Fri, 07 Feb 2025 21:38:26 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1065	1.0.0	Fri, 07 Feb 2025 00:00:00 -0000	GRCh38 (chrX:?_2782275-155611794_?)x2,GRCh38 (chrY:1-57227415)x1	(ERR: Missing)	Klinefelter Syndrome		Released	Complete	Complete	Complete	Infertility	GroupA	Semen collection or testicular sperm extraction (TESE) and cryopreservation	GroupA	1	3A	2	2A	8AA
AC1065	/AC1065	Variant-Condition	Fri May 24 00:00:00 UTC 2024	Fri, 07 Feb 2025 21:38:26 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1065	1.0.0	Fri, 07 Feb 2025 00:00:00 -0000	GRCh38 (chrX:?_2782275-155611794_?)x2,GRCh38 (chrY:1-57227415)x1	(ERR: Missing)	Klinefelter Syndrome		Released	Complete	Complete	Complete	Morbidity from hypogonadism	GroupA	Surveillance by specialist to guide management including consideration of testosterone supplementation	GroupA	1	3C	3	2A	9CA
AC134	/AC134	Gene-Condition	Fri Mar 01 00:00:00 UTC 2019	Mon, 16 Aug 2021 21:05:02 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC134	1.1.4	Mon, 16 Aug 2021 00:00:00 -0000	ACTA2,FBN1,LOX,MYH11,PRKG1,SMAD3,TGFB2,TGFBR1,TGFBR2	102620,134797,153455,160745,176894,603109,190220,190181,190182	Familial thoracic aortic aneurysms and dissections (FTAAD)	611788,154700,617168,132900,615436,613795,614816,609192,610168	Released	Complete	Complete	Complete	Clinically significant aortic aneurysm	GroupA	Aortic surveillance	GroupA	3	3C	3	2C	11CC
AC134	/AC134	Gene-Condition	Fri Mar 01 00:00:00 UTC 2019	Mon, 16 Aug 2021 21:05:02 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC134	1.1.4	Mon, 16 Aug 2021 00:00:00 -0000	ACTA2,FBN1,LOX,MYH11,PRKG1,SMAD3,TGFB2,TGFBR1,TGFBR2	102620,134797,153455,160745,176894,603109,190220,190181,190182	Familial thoracic aortic aneurysms and dissections (FTAAD)	611788,154700,617168,132900,615436,613795,614816,609192,610168	Released	Complete	Complete	Complete	Aortic dilation progression	GroupA	Pharmacotherapy	GroupA	2	3C	3	2B	10CB
AC129	/AC129	Gene-Condition	Tue Mar 19 00:00:00 UTC 2024	Fri, 16 Aug 2024 16:00:25 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC129	3.0.0	Fri, 16 Aug 2024 00:00:00 -0000	PMP22,MPZ,LITAF,EGR2,NEFL	601097,159440,603795,129010,162280	Charcot - Marie - Tooth Disease, Type 1	118220,118300,118200,601098,607678,607734	Released	Complete	Complete	Complete	Impairments in muscle strength, range of motion, mobility, and balance	GroupA	Evaluation by specialists to guide exercise and strength training programs	GroupA	1	3C	3	1A	8CA
AC129	/AC129	Gene-Condition	Tue Mar 19 00:00:00 UTC 2024	Fri, 16 Aug 2024 16:00:25 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC129	3.0.0	Fri, 16 Aug 2024 00:00:00 -0000	PMP22,MPZ,LITAF,EGR2,NEFL	601097,159440,603795,129010,162280	Charcot - Marie - Tooth Disease, Type 1	118220,118300,118200,601098,607678,607734	Released	Complete	Complete	Complete	Demyelinating peripheral neuropathy	GroupA	Avoidance of neurotoxic drugs	GroupA	1	3C	3	2N	9CN
AC024	/AC024	Gene-Condition	Tue Mar 10 00:00:00 UTC 2015	Thu, 04 Apr 2019 16:27:43 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC024	2.0.0	Thu, 04 Apr 2019 00:00:00 -0000	SDHC	602413	Hereditary Paragangliomas-Pheochromocytoma Syndrome (Paragangliomas III)	(No paired disease(s) for gene)	Retracted	Complete	Complete	Complete	Paraganglioma development	N/A	Surveillance	N/A	2	2C	3	2C	9CC
AC154	/AC154	Gene-Condition	Fri Aug 03 00:00:00 UTC 2018	Wed, 09 Feb 2022 13:59:48 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC154	1.2.3	Wed, 09 Feb 2022 00:00:00 -0000	GREM1	603054	Hereditary mixed polyposis syndrome 1	601228	Released	Complete	Complete	Complete	Colorectal Cancer	GroupA	Colonoscopy with polypectomy	GroupA	2	0D	2	3B	7DB
AC1056	/AC1056	Gene-Condition	Tue Jan 03 00:00:00 UTC 2023	Thu, 27 Apr 2023 19:22:52 -0000	Henninger Michelle	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1056	1.0.0	Thu, 27 Apr 2023 00:00:00 -0000	NAGS	608300	N-Acetyl Glutamate Synthase Deficiency (NAGSD)	237310	Released	Complete	Complete	Complete	Morbidity and mortality due to hyperammonemia	GroupA	Referral to a specialist to guide management, including N-carbamylglutamate, diet, and emergency planning	GroupA	2	0D	2	3D	7DD
AC101	/AC101	Gene-Condition	Mon May 23 00:00:00 UTC 2016	Wed, 09 Feb 2022 13:08:21 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC101	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	MEFV	608107	Familial Mediterranean Fever (AR)	249100	Released	Complete	Complete	Complete	Recurrent serositis	GroupA	Colchicine	GroupA	2	3C	2	3A	10CA
AC101	/AC101	Gene-Condition	Mon May 23 00:00:00 UTC 2016	Wed, 09 Feb 2022 13:08:21 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC101	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	MEFV	608107	Familial Mediterranean Fever (AR)	249100	Released	Complete	Complete	Complete	Amyloidosis	GroupA	Colchicine	GroupA	2	2C	2	3B	9CB
AC101	/AC101	Gene-Condition	Mon May 23 00:00:00 UTC 2016	Wed, 09 Feb 2022 13:08:21 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC101	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	MEFV	608107	Familial Mediterranean Fever (AR)	249100	Released	Complete	Complete	Complete	Joint problems	GroupA	Colchicine	GroupA	2	3C	2	3A	10CA
AC147	/AC147	Gene-Condition	Wed Oct 18 00:00:00 UTC 2017	Wed, 23 Feb 2022 00:28:34 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC147	1.4.0	Tue, 22 Feb 2022 00:00:00 -0000	SLC2A10	606145	Arterial tortuosity syndrome	208050	Released	Complete	Complete	Complete	Morbidity and mortality related to cardiovascular complications	GroupA	Evaluation by specialist to detect cardiovascular complications and guide treatment	GroupA	2	3N	3	2C	10NC
AC147	/AC147	Gene-Condition	Wed Oct 18 00:00:00 UTC 2017	Wed, 23 Feb 2022 00:28:34 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC147	1.4.0	Tue, 22 Feb 2022 00:00:00 -0000	SLC2A10	606145	Arterial tortuosity syndrome	208050	Released	Complete	Complete	Complete	Visual deterioration	GroupA	Periodic follow-up in ophthalmology clinic	GroupA	1	2N	3	0D	6ND
AC147	/AC147	Gene-Condition	Wed Oct 18 00:00:00 UTC 2017	Wed, 23 Feb 2022 00:28:34 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC147	1.4.0	Tue, 22 Feb 2022 00:00:00 -0000	SLC2A10	606145	Arterial tortuosity syndrome	208050	Released	Complete	Complete	Complete	Pregnancy-associated complications	GroupA	High risk pregnancy management	GroupA	2	0D	3	2N	7DN
AC147	/AC147	Gene-Condition	Wed Oct 18 00:00:00 UTC 2017	Wed, 23 Feb 2022 00:28:34 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC147	1.4.0	Tue, 22 Feb 2022 00:00:00 -0000	SLC2A10	606145	Arterial tortuosity syndrome	208050	Released	Complete	Complete	Complete	Adverse effects of sports and other risky physical activities	GroupA	Avoid contact sports and other risky physical activities	GroupA	2	0D	2	2D	6DD
AC075	/AC075	Gene-Condition	Thu Dec 22 00:00:00 UTC 2022	Wed, 14 Jan 2026 00:01:43 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC075	2.0.2	Tue, 13 Jan 2026 00:00:00 -0000	HNF1A	142410	Maturity Onset Diabetes of the Young Type I & Type III	600496	Released	Complete	Complete	Complete	Diabetes-related morbidity and mortality (HNF1A)	GroupA	Evaluation by specialist to guide management, including with sulfonylureas	GroupA	1	3N	3	3D	10ND
AC075	/AC075	Gene-Condition	Thu Dec 22 00:00:00 UTC 2022	Wed, 14 Jan 2026 00:01:43 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC075	2.0.2	Tue, 13 Jan 2026 00:00:00 -0000	HNF4A	600281	Maturity Onset Diabetes of the Young Type I & Type III	125850	Released	Complete	Complete	Complete	Diabetes-related morbidity and mortality (HNF4A)	GroupB	Evaluation by specialist to guide management, including with sulfonylureas	GroupB	1	2N	3	2D	8ND
AC114	/AC114	Gene-Condition	Tue Apr 05 00:00:00 UTC 2016	Wed, 28 Jun 2023 17:16:12 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC114	0.0.1	Wed, 28 Jun 2023 00:00:00 -0000	HFE	613609	Hemochromatosis, Type 1	235200	Released	Complete	Complete	Complete	Clinically apparent disease	GroupA	Monitoring of ferritin levels	GroupA	2	2A	3	3B	10AB
AC114	/AC114	Gene-Condition	Tue Apr 05 00:00:00 UTC 2016	Wed, 28 Jun 2023 17:16:12 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC114	0.0.1	Wed, 28 Jun 2023 00:00:00 -0000	HFE	613609	Hemochromatosis, Type 1	235200	Released	Complete	Complete	Complete	Clinically apparent disease	GroupA	Phlebotomy	GroupA	2	2A	3	3B	10AB
AC131	/AC131	Gene-Condition	Wed Aug 28 00:00:00 UTC 2019	Wed, 14 Jan 2026 19:40:38 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC131	2.0.6	Wed, 14 Jan 2026 00:00:00 -0000	KCNQ1,KCNH2	607542,152427	Long QT Syndrome, types 1, 2, and 3	192500,613688	Released	Complete	Complete	Complete	Sudden cardiac death (KCNQ1 KCNH2)	GroupA	Beta blockers	GroupA	3	2C	3	3A	11CA
AC131	/AC131	Gene-Condition	Wed Aug 28 00:00:00 UTC 2019	Wed, 14 Jan 2026 19:40:38 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC131	2.0.6	Wed, 14 Jan 2026 00:00:00 -0000	KCNQ1,KCNH2	607542,152427	Long QT Syndrome, types 1, 2, and 3	192500,613688	Released	Complete	Complete	Complete	Sudden cardiac death (KCNQ1 KCNH2)	GroupA	Avoidance of QT-prolonging medications	GroupA	3	2C	3	3N	11CN
AC131	/AC131	Gene-Condition	Wed Aug 28 00:00:00 UTC 2019	Wed, 14 Jan 2026 19:40:38 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC131	2.0.6	Wed, 14 Jan 2026 00:00:00 -0000	SCN5A	600163	Long QT Syndrome, types 1, 2, and 3	603830	Released	Complete	Complete	Complete	Sudden cardiac death (SCN5A)	GroupB	Beta blockers	GroupB	3	2C	3	2B	10CB
AC131	/AC131	Gene-Condition	Wed Aug 28 00:00:00 UTC 2019	Wed, 14 Jan 2026 19:40:38 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC131	2.0.6	Wed, 14 Jan 2026 00:00:00 -0000	SCN5A	600163	Long QT Syndrome, types 1, 2, and 3	603830	Released	Complete	Complete	Complete	Sudden cardiac death (SCN5A)	GroupB	Avoidance of QT-prolonging medications	GroupB	3	2C	3	3N	11CN
AC1008	/AC1008	Gene-Condition	Mon Oct 28 00:00:00 UTC 2019	Tue, 23 Sep 2025 22:24:52 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1008	1.2.0	Tue, 23 Sep 2025 00:00:00 -0000	FANCA,BRCA2,FANCG,BRIP1,FANCC,PALB2	607139,600185,602956,605882,613899,610355	Fanconi Anemia	227650,605724,614082,609054,613899,610832	Released	Complete	Complete	Complete	Morbidity due to bone marrow failure	GroupA	Evaluation by hematologist with blood counts and bone marrow aspirate to monitor bone marrow failure to initiate further treatment	GroupA	2	3C	2	2D	9CD
AC1008	/AC1008	Gene-Condition	Mon Oct 28 00:00:00 UTC 2019	Tue, 23 Sep 2025 22:24:52 -0000	Jenkins Charisma	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1008	1.2.0	Tue, 23 Sep 2025 00:00:00 -0000	FANCA,BRCA2,FANCG,BRIP1,FANCC,PALB2	607139,600185,602956,605882,613899,610355	Fanconi Anemia	227650,605724,614082,609054,613899,610832	Released	Complete	Complete	Complete	Morbidity due to FA-related solid tumors	GroupA	Evaluation by provider with experience in FA to detect solid tumors and initiate treatment	GroupA	2	2C	3	2C	9CC
AC098	/AC098	Gene-Condition	Tue May 31 00:00:00 UTC 2022	Sun, 24 Mar 2024 15:01:23 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC098	1.2.5	Sun, 24 Mar 2024 00:00:00 -0000	BTD	609019	Biotinidase Deficiency	253260	Released	Complete	Incomplete	Complete	Morbidity and mortality from biotin deficiency	GroupA	Referral to a metabolic specialist for evaluation and biotin supplementation	GroupA	1	0D	3	2C	6DC
AC1058	/AC1058	Gene-Condition	Mon Sep 19 00:00:00 UTC 2022	Thu, 04 May 2023 23:07:20 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1058	1.0.0	Thu, 04 May 2023 00:00:00 -0000	CA5A	114761	Carbonic anhydrase VA deficiency	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC1026	/AC1026	Gene-Condition	Tue Jun 01 00:00:00 UTC 2021	Wed, 09 Feb 2022 13:24:05 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1026	1.0.2	Wed, 09 Feb 2022 00:00:00 -0000	PPP1CB,SHOC2	600590,602775	Noonan syndrome-like with loose anagen hair	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC068	/AC068	Gene-Condition	Fri Mar 26 00:00:00 UTC 2021	Sun, 24 Mar 2024 15:00:11 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC068	3.0.3	Sun, 24 Mar 2024 00:00:00 -0000	TP53	191170	Li-Fraumeni Syndrome	151623	Released	Complete	Complete	Complete	Morbidity and mortality from Li Fraumeni syndrome-associated cancers	GroupA	Cancer surveillance	GroupA	2	3C	2	2B	9CB
AC068	/AC068	Gene-Condition	Fri Mar 26 00:00:00 UTC 2021	Sun, 24 Mar 2024 15:00:11 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC068	3.0.3	Sun, 24 Mar 2024 00:00:00 -0000	TP53	191170	Li-Fraumeni Syndrome	151623	Released	Complete	Complete	Complete	Morbidity and mortality from Li Fraumeni syndrome-associated cancers	GroupA	Avoidance of radiotherapy	GroupA	2	3C	2	2D	9CD
AC027	/AC027	Gene-Condition	Tue Jan 04 00:00:00 UTC 2022	Mon, 21 Feb 2022 21:23:08 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC027	2.0.0	Mon, 21 Feb 2022 00:00:00 -0000	VHL	608537	Von Hippel-Lindau Syndrome	193300	Released	Complete	Complete	Complete	Morbidity and mortality from VHL-related tumors	GroupA	Evaluation by specialist with imaging and biochemical testing to detect tumors (or precursors) and guide treatment	GroupA	2	3A	2	3B	10AB
AC067	/AC067	Gene-Condition	Fri Mar 01 00:00:00 UTC 2019	Tue, 24 Aug 2021 18:08:28 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067	3.0.4	Tue, 24 Aug 2021 00:00:00 -0000	SMAD3,TGFB2,TGFB3,TGFBR1,TGFBR2	603109,190220,190230,190181,190182	Loeys-Dietz Syndrome	613795,614816,615582,609192,610168	Released	Complete	Complete	Complete	Clinically Significant Aortic Aneurysm	GroupA	Aortic surveillance	GroupA	3	3C	3	3C	12CC
AC067	/AC067	Gene-Condition	Fri Mar 01 00:00:00 UTC 2019	Tue, 24 Aug 2021 18:08:28 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC067	3.0.4	Tue, 24 Aug 2021 00:00:00 -0000	SMAD3,TGFB2,TGFB3,TGFBR1,TGFBR2	603109,190220,190230,190181,190182	Loeys-Dietz Syndrome	613795,614816,615582,609192,610168	Released	Complete	Complete	Complete	Aortic Dilation Progression	GroupA	Pharmacotherapy	GroupA	2	3C	3	2B	10CB
AC1042	/AC1042	Gene-Condition	Thu Sep 02 00:00:00 UTC 2021	Wed, 09 Feb 2022 13:31:29 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042	1.0.1	Wed, 09 Feb 2022 00:00:00 -0000	RUNX1	151385	Hereditary thrombocytopenia and hematological cancer predisposition syndrome	601399	Released	Complete	Complete	Complete	Morbidity and mortality associated with hematological malignancies	GroupA	Referral and surveillance to guide appropriate management by hematology team, including potential bone marrow biopsy	GroupA	2	3C	2	0D	7CD
AC1042	/AC1042	Gene-Condition	Thu Sep 02 00:00:00 UTC 2021	Wed, 09 Feb 2022 13:31:29 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1042	1.0.1	Wed, 09 Feb 2022 00:00:00 -0000	RUNX1	151385	Hereditary thrombocytopenia and hematological cancer predisposition syndrome	601399	Released	Complete	Complete	Complete	Bleeding complications with pregnancy, procedures, or trauma	GroupA	Referral and surveillance to guide appropriate management by hematology team	GroupA	2	2C	3	2N	9CN
AC132	/AC132	Gene-Condition	Wed Sep 02 00:00:00 UTC 2020	Wed, 09 Feb 2022 13:48:57 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC132	2.0.1	Wed, 09 Feb 2022 00:00:00 -0000	COL3A1	120180	Vascular Ehlers-Danlos Syndrome	130050	Released	Complete	Complete	Complete	Morbidity and mortality from arterial or organ rupture	GroupA	Referral to specialists to guide appropriate risk management including surveillance for aneurysm	GroupA	3	3C	3	1D	10CD
AC137	/AC137	Gene-Condition	Mon Jun 12 00:00:00 UTC 2017	Thu, 20 Apr 2023 20:03:50 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC137	1.1.3	Thu, 20 Apr 2023 00:00:00 -0000	PROS1	176880	Thrombophilia due to protein S deficiency	612336	Released	Incomplete	Complete	Complete	Venous thromboembolism	GroupA	High risk obstetric care for pregnant women (includes pharmacological prophylaxis)	GroupA	2	2C	2	2B	8CB
AC137	/AC137	Gene-Condition	Mon Jun 12 00:00:00 UTC 2017	Thu, 20 Apr 2023 20:03:50 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC137	1.1.3	Thu, 20 Apr 2023 00:00:00 -0000	PROS1	176880	Thrombophilia due to protein S deficiency	612336	Released	Incomplete	Complete	Complete	Venous thromboembolism	GroupA	Pharmacological prophylaxis in high-risk situations for men and non-pregnant women	GroupA	2	2C	2	2B	8CB
AC008	/AC008	Gene-Condition	Thu Apr 13 00:00:00 UTC 2023	Mon, 21 Aug 2023 21:54:36 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC008	1.0.0	Mon, 21 Aug 2023 00:00:00 -0000	ALDOB	612724	Hereditary fructose intolerance	229600	Released	Complete	Complete	Complete	Morbidity associated with hereditary fructose intolerance including organ failure	GroupA	Avoidance of dietary, iatrogenic, or acute exposure to fructose, sucrose, and sorbitol	GroupA	2	0D	2	3D	7DD
AC157	/AC157	Gene-Condition	Mon Dec 10 00:00:00 UTC 2018	Wed, 09 Feb 2022 14:01:33 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC157	1.2.4	Wed, 09 Feb 2022 00:00:00 -0000	CP	117700	Aceruloplasminemia	604290	Released	Complete	Complete	Complete	Morbidity due to iron accumulation	GroupA	Iron chelation and avoidance of iron supplementation	GroupA	2	3C	3	2D	10CD
AC042	/AC042	Gene-Condition	Thu Mar 11 00:00:00 UTC 2021	Wed, 09 Feb 2022 12:34:26 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC042	2.0.1	Wed, 09 Feb 2022 00:00:00 -0000	RYR2,CASQ2,TRDN,CALM1,CALM2,CALM3,TECRL	604772,114251,603283,114180,114182,114183,617242	Catecholaminergic Polymorphic Ventricular Tachycardia	604772,611938,615441,614916,616249,618782,614021	Released	Complete	Complete	Complete	Sudden cardiac death	GroupA	Antiarrhythmic therapy with beta-blockers and consideration for more intensive therapies as indicated	GroupA	3	2C	3	2A	10CA
AC042	/AC042	Gene-Condition	Thu Mar 11 00:00:00 UTC 2021	Wed, 09 Feb 2022 12:34:26 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC042	2.0.1	Wed, 09 Feb 2022 00:00:00 -0000	RYR2,CASQ2,TRDN,CALM1,CALM2,CALM3,TECRL	604772,114251,603283,114180,114182,114183,617242	Catecholaminergic Polymorphic Ventricular Tachycardia	604772,611938,615441,614916,616249,618782,614021	Released	Complete	Complete	Complete	Sudden cardiac death	GroupA	Avoidance of intense exercise	GroupA	3	2C	3	2N	10CN
AC1027	/AC1027	Gene-Condition	Mon Jun 21 00:00:00 UTC 2021	Fri, 30 May 2025 14:29:53 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1027	1.0.3	Fri, 30 May 2025 00:00:00 -0000	GBA,LRRK2,PARK2,PARK7,PINK1,SNCA,VPS13C,VPS35	606463,609007,602544,602533,608309,163890,608879,601501	Early-Onset and Late-Onset Adult Monogenic Parkinson Disease	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC044	/AC044	Gene-Condition	Wed Jul 13 00:00:00 UTC 2016	Wed, 09 Feb 2022 12:35:39 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC044	1.1.2	Wed, 09 Feb 2022 00:00:00 -0000	F8,F9	300841,300746	Hemophilia A and B	306700,306900	Released	Complete	Complete	Complete	Males: Severe/prolonged hemorrhage	GroupA	Development of comprehensive management plan based on activity levels	GroupA	2	3C	2	2B	9CB
AC044	/AC044	Gene-Condition	Wed Jul 13 00:00:00 UTC 2016	Wed, 09 Feb 2022 12:35:39 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC044	1.1.2	Wed, 09 Feb 2022 00:00:00 -0000	F8,F9	300841,300746	Hemophilia A and B	306700,306900	Released	Complete	Complete	Complete	Females: Severe/prolonged hemorrhage	GroupA	Development of comprehensive management plan based on activity levels	GroupA	2	2C	3	2B	9CB
AC022	/AC022	Gene-Condition	Tue Mar 10 00:00:00 UTC 2015	Thu, 04 Apr 2019 16:27:31 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC022	2.0.0	Thu, 04 Apr 2019 00:00:00 -0000	SDHD	602690	Hereditary Paragangliomas-Pheochromocytoma Syndrome (Paragangliomas I)	(No paired disease(s) for gene)	Retracted	Complete	Complete	Complete	Paraganglioma development	N/A	Surveillance	N/A	2	3C	3	2C	10CC
AC065	/AC065	Gene-Condition	Tue May 08 00:00:00 UTC 2018	Wed, 03 May 2023 21:10:18 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC065	3.0.3	Wed, 03 May 2023 00:00:00 -0000	LDLR,APOB,PCSK9	606945,107730,607786	Homozygous Familial Hypercholesterolemia	143890,144010,603776	Released	Complete	Complete	Complete	Clinical cardiovascular events	GroupA	Lipid lowering therapy (including apheresis) to FH appropriate LDL-C goal	GroupA	3	3D	2	3A	11DA
AC142	/AC142	Gene-Condition	Tue Sep 19 00:00:00 UTC 2017	Mon, 01 Aug 2022 22:11:23 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC142	(ERR: Missing)	Mon, 01 Aug 2022 00:00:00 -0000	GCDH	608801	Glutaric Acidemia I	231670	Released	Complete	Complete	Complete	Neurologic crises and functional decline	GroupA	Low protein/lysine diet	GroupA	2	2D	2	0D	6DD
AC142	/AC142	Gene-Condition	Tue Sep 19 00:00:00 UTC 2017	Mon, 01 Aug 2022 22:11:23 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC142	(ERR: Missing)	Mon, 01 Aug 2022 00:00:00 -0000	GCDH	608801	Glutaric Acidemia I	231670	Released	Complete	Complete	Complete	Neurologic crises and functional decline	GroupA	Management by metabolic clinic	GroupA	2	2D	3	3D	10DD
AC1023	/AC1023	Gene-Condition	Tue Mar 02 00:00:00 UTC 2021	Mon, 07 Jun 2021 20:21:10 -0000	Hunter Jessica	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1023	1.0.0	Mon, 07 Jun 2021 00:00:00 -0000	PTPN11	176876	Noonan Syndrome with Multiple Lentigines	176876	Released	Complete	Complete	Complete	Cardiac manifestations	GroupA	Cardiac surveillance with modification of physical activities as appropriate	GroupA	2	3C	3	0D	8CD
AC021	/AC021	Gene-Condition	Wed Mar 31 00:00:00 UTC 2021	Wed, 09 Feb 2022 12:27:09 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC021	2.0.3	Wed, 09 Feb 2022 00:00:00 -0000	NF2	607379	Neurofibromatosis Type II	101000	Released	Complete	Complete	Complete	Morbidity and mortality from NF2-related tumors	GroupA	Management in specialty centers with multidisciplinary teams for comprehensive care (includes hearing preservation and augmentation, appropriate surveillance, and downstream management)	GroupA	2	3C	3	3B	11CB
AC122	/AC122	Gene-Condition	Tue May 13 00:00:00 UTC 2014	Wed, 09 Feb 2022 13:43:21 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC122	2.0.5	Wed, 09 Feb 2022 00:00:00 -0000	MCEE,MMAA,MMAB,MMADHC,MUT	608419,607481,607568,611935,609058	Methylmalonic Acidemia	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC104	/AC104	Gene-Condition	Thu Dec 08 00:00:00 UTC 2022	Fri, 22 Dec 2023 01:02:00 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC104	2.0.1	Thu, 21 Dec 2023 00:00:00 -0000	GBA	606463	Gaucher Disease	230800	Released	Complete	Complete	Complete	Morbidity due to non-neurological manifestations (including hematological, visceral, and skeletal disease)	GroupA	Evaluation and management by a multidisciplinary care center for surveillance and initiation of enzyme replacement therapy or substrate reduction therapy, when indicated	GroupA	2	3C	2	3A	10CA
AC1017	/AC1017	Gene-Condition	Mon Oct 26 00:00:00 UTC 2020	Mon, 16 Oct 2023 20:27:56 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1017	1.0.0	Mon, 16 Oct 2023 00:00:00 -0000	ASS1	603470	Citrullinemia	215700	Released	Complete	Complete	Complete	Morbidity and mortality due to metabolic decompensation	GroupA	Referral to specialist to guide metabolic management	GroupA	2	2N	3	3C	10NC
AC070	/AC070	Gene-Condition	Wed Jan 31 00:00:00 UTC 2018	Wed, 09 Feb 2022 12:46:58 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC070	2.2.3	Wed, 09 Feb 2022 00:00:00 -0000	MUTYH	604933	MUTYH-Associated Polyposis	608456	Released	Complete	Complete	Complete	Colorectal cancer	GroupA	Colonoscopy with polypectomy	GroupA	2	3C	2	3C	10CC
AC070	/AC070	Gene-Condition	Wed Jan 31 00:00:00 UTC 2018	Wed, 09 Feb 2022 12:46:58 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC070	2.2.3	Wed, 09 Feb 2022 00:00:00 -0000	MUTYH	604933	MUTYH-Associated Polyposis	608456	Released	Complete	Complete	Complete	Upper GI (stomach or duodenum) cancer	GroupA	Upper Endoscopy with polypectomy	GroupA	2	2C	2	2D	8CD
AC106	/AC106	Gene-Condition	Mon Nov 02 00:00:00 UTC 2015	Sun, 24 Mar 2024 15:02:49 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC106	1.4.4	Sun, 24 Mar 2024 00:00:00 -0000	F5	612309	Factor V Leiden, Heterozygous	188055	Released	Incomplete	Complete	Complete	VTE	GroupA	Assessment for VTE risk factors	GroupA	2	2C	Not Scored	IN	IN
AC106	/AC106	Gene-Condition	Mon Nov 02 00:00:00 UTC 2015	Sun, 24 Mar 2024 15:02:49 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC106	1.4.4	Sun, 24 Mar 2024 00:00:00 -0000	F5	612309	Factor V Leiden, Heterozygous	188055	Released	Incomplete	Complete	Complete	VTE	GroupA	Avoid estrogen-containing compounds that exacerbate VTE risk	GroupA	2	2C	2	2B	8CB
AC106	/AC106	Gene-Condition	Mon Nov 02 00:00:00 UTC 2015	Sun, 24 Mar 2024 15:02:49 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC106	1.4.4	Sun, 24 Mar 2024 00:00:00 -0000	F5	612309	Factor V Leiden, Heterozygous	188055	Released	Incomplete	Complete	Complete	VTE	GroupA	Pharmacological prophylaxis	GroupA	2	2C	1	0A	5CA
AC155	/AC155	Gene-Condition	Thu Sep 06 00:00:00 UTC 2018	Wed, 09 Feb 2022 14:00:23 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC155	1.1.3	Wed, 09 Feb 2022 00:00:00 -0000	DES	125660	Myofibrillar Myopathy	601419	Released	Complete	Complete	Complete	Clinically significant cardiac involvement (DES)	GroupA	Cardiology management	GroupA	2	3A	3	2D	10AD
AC155	/AC155	Gene-Condition	Thu Sep 06 00:00:00 UTC 2018	Wed, 09 Feb 2022 14:00:23 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC155	1.1.3	Wed, 09 Feb 2022 00:00:00 -0000	DES	125660	Myofibrillar Myopathy	601419	Released	Complete	Complete	Complete	Clinically significant cardiac involvement (DES)	GroupA	ICD implantation	GroupA	2	3A	2	2C	9AC
AC155	/AC155	Gene-Condition	Thu Sep 06 00:00:00 UTC 2018	Wed, 09 Feb 2022 14:00:23 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC155	1.1.3	Wed, 09 Feb 2022 00:00:00 -0000	FLNC	102565	Myofibrillar Myopathy	609524	Released	Complete	Complete	Complete	Clinically significant cardiac involvement (FLNC)	GroupB	Cardiology management	GroupB	2	2A	3	2D	9AD
AC155	/AC155	Gene-Condition	Thu Sep 06 00:00:00 UTC 2018	Wed, 09 Feb 2022 14:00:23 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC155	1.1.3	Wed, 09 Feb 2022 00:00:00 -0000	FLNC	102565	Myofibrillar Myopathy	609524	Released	Complete	Complete	Complete	Clinically significant cardiac involvement (FLNC)	GroupB	ICD implantation	GroupB	2	2A	2	2D	8AD
AC1037	/AC1037	Gene-Condition	Mon Sep 19 00:00:00 UTC 2022	Thu, 04 May 2023 23:11:42 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1037	1.0.1	Thu, 04 May 2023 00:00:00 -0000	GAMT,GATM,SLC6A8	601240,602360,300036	Cerebral creatine deficiency syndromes	(No paired disease(s) for gene)	Released	Failed	Incomplete	Incomplete		N/A		N/A					
AC117	/AC117	Gene-Condition	Fri Dec 01 00:00:00 UTC 2023	Mon, 15 Apr 2024 20:41:31 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC117	2.0.0	Mon, 15 Apr 2024 00:00:00 -0000	ABCD1	300371	Adrenoleukodystrophy	300100	Released	Complete	Complete	Complete	Morbidity and mortality due to cerebral adrenoleukodystrophy (males only)	GroupA	Evaluation and surveillance by specialist to guide initiation of hematopoietic cell transplantation or gene therapy	GroupA	2	2D	1	2C	7DC
AC117	/AC117	Gene-Condition	Fri Dec 01 00:00:00 UTC 2023	Mon, 15 Apr 2024 20:41:31 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC117	2.0.0	Mon, 15 Apr 2024 00:00:00 -0000	ABCD1	300371	Adrenoleukodystrophy	300100	Released	Complete	Complete	Complete	Morbidity and mortality due to adrenal insufficiency (males only)	GroupA	Evaluation and management by specialist to guide hormone replacement	GroupA	1	3C	3	3B	10CB
AC139	/AC139	Gene-Condition	Thu Jul 06 00:00:00 UTC 2017	Wed, 09 Feb 2022 13:54:16 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	BAP1	603089	Tumor Predisposition Syndrome	614327	Released	Complete	Complete	Complete	Malignant Mesothelioma	GroupA	Imaging	GroupA	2	2C	2	0C	6CC
AC139	/AC139	Gene-Condition	Thu Jul 06 00:00:00 UTC 2017	Wed, 09 Feb 2022 13:54:16 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	BAP1	603089	Tumor Predisposition Syndrome	614327	Released	Complete	Complete	Complete	Melanoma	GroupA	Annual full-body dermatology exam	GroupA	2	2C	3	2N	9CN
AC139	/AC139	Gene-Condition	Thu Jul 06 00:00:00 UTC 2017	Wed, 09 Feb 2022 13:54:16 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	BAP1	603089	Tumor Predisposition Syndrome	614327	Released	Complete	Complete	Complete	Uveal Melanoma	GroupA	Annual eye exam, including dilated eye exam, by ocular oncologist	GroupA	2	2C	3	0C	7CC
AC139	/AC139	Gene-Condition	Thu Jul 06 00:00:00 UTC 2017	Wed, 09 Feb 2022 13:54:16 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC139	1.2.2	Wed, 09 Feb 2022 00:00:00 -0000	BAP1	603089	Tumor Predisposition Syndrome	614327	Released	Complete	Complete	Complete	Clear Cell Renal Cell Carcinoma	GroupA	Abdominal Ultrasound	GroupA	2	2C	3	3D	10CD
AC093	/AC093	Gene-Condition	Mon Aug 26 00:00:00 UTC 2024	Fri, 20 Dec 2024 19:52:26 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC093	2.0.0	Fri, 20 Dec 2024 00:00:00 -0000	SERPINA1	107400	Alpha-1 Antitrypsin Deficiency	613490	Released	Complete	Complete	Complete	Morbidity and mortality from lung disease	GroupA	AAT augmentation therapy	GroupA	2	3D	2	1A	8DA
AC093	/AC093	Gene-Condition	Mon Aug 26 00:00:00 UTC 2024	Fri, 20 Dec 2024 19:52:26 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC093	2.0.0	Fri, 20 Dec 2024 00:00:00 -0000	SERPINA1	107400	Alpha-1 Antitrypsin Deficiency	613490	Released	Complete	Complete	Complete	Morbidity and mortality from lung disease	GroupA	Avoidance of environmental exposures including cigarette smoke	GroupA	2	3D	2	2C	9DC
AC093	/AC093	Gene-Condition	Mon Aug 26 00:00:00 UTC 2024	Fri, 20 Dec 2024 19:52:26 -0000	Cope Heidi	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC093	2.0.0	Fri, 20 Dec 2024 00:00:00 -0000	SERPINA1	107400	Alpha-1 Antitrypsin Deficiency	613490	Released	Complete	Complete	Complete	Morbidity and mortality from liver disease	GroupA	Surveillance by specialist to guide management including consideration of liver transplant	GroupA	2	2A	1	3A	8AA
AC152	/AC152	Gene-Condition	Thu Jul 05 00:00:00 UTC 2018	Wed, 09 Feb 2022 13:58:38 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC152	1.1.4	Wed, 09 Feb 2022 00:00:00 -0000	POLE	174762	POLE and POLD1 associated susceptibility to CRC	615083	Released	Complete	Complete	Complete	Colorectal Cancer	GroupA	Colonoscopy with polypectomy	GroupA	2	2B	2	3B	9BB
AC152	/AC152	Gene-Condition	Thu Jul 05 00:00:00 UTC 2018	Wed, 09 Feb 2022 13:58:38 -0000	Administrator Account Genboree	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC152	1.1.4	Wed, 09 Feb 2022 00:00:00 -0000	POLD1	174761	POLE and POLD1 associated susceptibility to CRC	612591	Released	Complete	Complete	Complete	Colorectal Cancer	GroupB	Colonoscopy with polypectomy	GroupB	2	3B	2	3B	10BB
AC1061	/AC1061	Gene-Condition	Mon Sep 11 00:00:00 UTC 2023	Tue, 13 Feb 2024 19:50:58 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1061	1.0.0	Tue, 13 Feb 2024 00:00:00 -0000	CDKN1B	600778	Multiple endocrine neoplasia type 4	610755	Released	Complete	Complete	Complete	Morbidity from parathyroid adenoma	GroupA	Evaluation and management by specialists, including biochemical surveillance to guide imaging and parathyroidectomy	GroupA	1	3N	3	3C	10NC
AC1061	/AC1061	Gene-Condition	Mon Sep 11 00:00:00 UTC 2023	Tue, 13 Feb 2024 19:50:58 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC1061	1.0.0	Tue, 13 Feb 2024 00:00:00 -0000	CDKN1B	600778	Multiple endocrine neoplasia type 4	610755	Released	Complete	Complete	Complete	Morbidity and mortality from MEN4-related tumors other than parathyroid adenoma	GroupA	Evaluation and management by specialists, including biochemical and imaging surveillance to guide treatment	GroupA	2	0D	3	2C	7DC
AC080	/AC080	Gene-Condition	Wed Mar 06 00:00:00 UTC 2019	Mon, 18 Oct 2021 21:39:07 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC080	2.0.2	Mon, 18 Oct 2021 00:00:00 -0000	RET	164761	Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer	155240,171400	Released	Complete	Complete	Complete	Medullary thyroid cancer	GroupA	Prophylactic Thyroidectomy	GroupA	2	3C	1	3A	9CA
AC080	/AC080	Gene-Condition	Wed Mar 06 00:00:00 UTC 2019	Mon, 18 Oct 2021 21:39:07 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC080	2.0.2	Mon, 18 Oct 2021 00:00:00 -0000	RET	164761	Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer	155240,171400	Released	Complete	Complete	Complete	Pheochromocytoma	GroupA	Biochemical surveillance	GroupA	2	3C	3	3D	11CD
AC080	/AC080	Gene-Condition	Wed Mar 06 00:00:00 UTC 2019	Mon, 18 Oct 2021 21:39:07 -0000	Pak Christine	Adult	https://actionability.clinicalgenome.org/ac/Adult/api/sepio/doc/AC080	2.0.2	Mon, 18 Oct 2021 00:00:00 -0000	RET	164761	Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer	155240,171400	Released	Complete	Complete	Complete	Hyperparathyroidism	GroupA	Biochemical surveillance	GroupA	1	2C	3	3D	9CD