# 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 AC100 /AC100 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 04 Aug 2021 21:09:20 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC100 1.1.3 Wed, 04 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 Wed, 04 Aug 2021 21:09:20 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC100 1.1.3 Wed, 04 Aug 2021 00:00:00 -0000 FBN1 134797 Marfan Syndrome 154700 Released Complete Complete Complete Aortic dilation progression GroupA Pharmacotherapy GroupA 3 3C 3 2A 11CA AC011 /AC011 Gene-Condition Fri Nov 16 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:24:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC011 1.1.3 Wed, 09 Feb 2022 00:00:00 -0000 WAS 300392 WAS-related disorders 300299,301000,313900 Released Complete Complete Complete WAS-related morbidity and mortality (males only) GroupA Referral to hematology for clinical scoring of WAS-related conditions to determine treatment GroupA 2 3C 2 2C 9CC AC013 /AC013 Gene-Condition Thu Jan 17 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:26:35 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC013 1.1.3 Wed, 09 Feb 2022 00:00:00 -0000 ATP7A 300011 Menkes disease 309400 Released Complete Complete Complete Death GroupA Subcutaneous copper-histidine (initiated before 30 days of life) GroupA 2 3C 2 2B 9CB AC013 /AC013 Gene-Condition Thu Jan 17 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:26:35 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC013 1.1.3 Wed, 09 Feb 2022 00:00:00 -0000 ATP7A 300011 Menkes disease 309400 Released Complete Complete Complete Neurodegeneration GroupA Subcutaneous copper-histidine (initiated before 30 days of life) GroupA 2 3C 2 2A 9CA AC081 /AC081 Gene-Condition Wed Mar 06 00:00:00 UTC 2019 Mon, 13 Sep 2021 19:51:42 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC081 1.1.3 Mon, 13 Sep 2021 00:00:00 -0000 RET 164761 Multiple Endocrine Neoplasia Type IIB 162300 Released Complete Complete Complete Medullary thyroid carcinoma GroupA Prophylactic thyroidectomy GroupA 2 3C 1 3B 9CB AC081 /AC081 Gene-Condition Wed Mar 06 00:00:00 UTC 2019 Mon, 13 Sep 2021 19:51:42 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC081 1.1.3 Mon, 13 Sep 2021 00:00:00 -0000 RET 164761 Multiple Endocrine Neoplasia Type IIB 162300 Released Complete Complete Complete Pheochromocytoma GroupA Biochemical Surveillance GroupA 2 3C 3 3D 11CD AC040 /AC040 Gene-Condition Thu Oct 10 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:33:06 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC040 1.0.2 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 AC040 /AC040 Gene-Condition Thu Oct 10 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:33:06 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC040 1.0.2 Wed, 09 Feb 2022 00:00:00 -0000 SCN5A 600163 Brugada Syndrome 601144 Released Complete Complete Complete Sudden cardiac death GroupA Risk stratification (may include EPS) to guide ICD placement GroupA 3 2C 2 2D 9CD AC042 /AC042 Gene-Condition Thu Mar 11 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:35:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC042 1.0.1 Wed, 09 Feb 2022 00:00:00 -0000 RYR2,CASQ2,TRDN,CALM1,CALM2,CALM3,TECRL 180902,114251,603283,114180,114182,114183,617242 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 3C 3 3A 12CA AC042 /AC042 Gene-Condition Thu Mar 11 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:35:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC042 1.0.1 Wed, 09 Feb 2022 00:00:00 -0000 RYR2,CASQ2,TRDN,CALM1,CALM2,CALM3,TECRL 180902,114251,603283,114180,114182,114183,617242 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 3C 3 2N 11CN AC007 /AC007 Gene-Condition Tue Nov 27 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:22:09 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC007 1.2.3 Wed, 09 Feb 2022 00:00:00 -0000 CTNS 606272 Cystinosis 219800 Released Incomplete Complete Complete End-Stage Renal Disease (ESRD) GroupA Oral cysteamine GroupA 2 3C 2 2B 9CB AC007 /AC007 Gene-Condition Tue Nov 27 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:22:09 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC007 1.2.3 Wed, 09 Feb 2022 00:00:00 -0000 CTNS 606272 Cystinosis 219800 Released Incomplete Complete Complete Corneal crystals GroupA Ophthalmic cysteamine GroupA 1 3D 2 2B 8DB AC047 /AC047 Gene-Condition Wed Dec 11 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:37:17 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC047 1.0.2 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 2A 9CA AC047 /AC047 Gene-Condition Wed Dec 11 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:37:17 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC047 1.0.2 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 2A 8CA AC047 /AC047 Gene-Condition Wed Dec 11 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:37:17 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC047 1.0.2 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 2A 8CA AC047 /AC047 Gene-Condition Wed Dec 11 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:37:17 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC047 1.0.2 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 2A 8CA AC047 /AC047 Gene-Condition Wed Dec 11 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:37:17 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC047 1.0.2 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 2A 8CA AC047 /AC047 Gene-Condition Wed Dec 11 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:37:17 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC047 1.0.2 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 2D 7CD AC067 /AC067 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:44:04 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC067 1.0.3 Wed, 09 Feb 2022 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 Wed, 09 Feb 2022 12:44:04 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC067 1.0.3 Wed, 09 Feb 2022 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 3 3C 3 2B 11CB AC077 /AC077 Gene-Condition Tue Jan 15 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:50:38 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC077 1.1.5 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 1 3C 3 3B 10CB AC077 /AC077 Gene-Condition Tue Jan 15 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:50:38 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC077 1.1.5 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 (gastrinoma excluded) GroupA Biochemical surveillance GroupA 2 2C 3 2B 9CB AC077 /AC077 Gene-Condition Tue Jan 15 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:50:38 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC077 1.1.5 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 (gastrinoma excluded) GroupA Imaging surveillance GroupA 2 2C 2 2B 8CB AC001 /AC001 Gene-Condition Mon Apr 30 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:19:21 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC001 1.3.4 Wed, 09 Feb 2022 00:00:00 -0000 RB1 614041 Retinoblastoma 180200 Released Complete Complete Complete Morbidity or mortality from retinoblastoma GroupA Surveillance GroupA 2 3C 2 3B 10CB AC001 /AC001 Gene-Condition Mon Apr 30 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:19:21 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC001 1.3.4 Wed, 09 Feb 2022 00:00:00 -0000 RB1 614041 Retinoblastoma 180200 Released Complete Complete Complete Morbidity or mortality from second extra-ocular malignant neoplasms GroupA Surveillance GroupA 2 2C 3 2N 9CN AC1001 /AC1001 Gene-Condition Wed Apr 17 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:01:21 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1001 1.1.4 Wed, 09 Feb 2022 00:00:00 -0000 IDS 300823 Mucopolysaccharidosis Type II 309900 Released Complete Complete Complete Somatic manifestations (as defined by quantitative measures of pulmonary function, 6 minute walk, and hepatosplenomegaly) GroupA Enzyme replacement therapy (ERT) with idursulfase GroupA 2 3C 2 2B 9CB AC1001 /AC1001 Gene-Condition Wed Apr 17 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:01:21 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1001 1.1.4 Wed, 09 Feb 2022 00:00:00 -0000 IDS 300823 Mucopolysaccharidosis Type II 309900 Released Complete Complete Complete Early Mortality GroupA Enzyme replacement therapy (ERT) with idursulfase GroupA 2 3C 2 2N 9CN AC061 /AC061 Gene-Condition Mon May 15 00:00:00 UTC 2023 Wed, 20 Sep 2023 21:25:29 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC061 1.0.0 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 1C 3 2C 8CC AC1002 /AC1002 Gene-Condition Wed May 29 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:02:29 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1002 1.1.4 Wed, 09 Feb 2022 00:00:00 -0000 ALDH7A1 107323 Pyridoxine-dependent epilepsy 266100 Released Complete Complete Complete Seizures GroupA Pyridoxine therapy GroupA 2 3C 3 3B 11CB AC1022 /AC1022 Gene-Condition Sat Dec 26 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:20:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 and mortality associated with metabolic decompensation GroupA Metabolic management (dietary management and illness protocols) GroupA 2 2C 2 2C 8CC AC1022 /AC1022 Gene-Condition Sat Dec 26 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:20:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 and mortality associated with metabolic decompensation GroupA Triheptanoin treatment GroupA 2 2C 2 2N 8CN AC1004 /AC1004 Gene-Condition Tue Aug 06 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:04:14 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 2C 3 3C 11CC AC1004 /AC1004 Gene-Condition Tue Aug 06 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:04:14 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 from primary pigmented nodular adrenocortical disease GroupA Biochemical and imaging surveillance to detect tumors and guide treatment GroupA 2 2C 3 3D 10CD AC1011 /AC1011 Gene-Condition Wed Jun 03 21:28:49 UTC 2020 Wed, 09 Feb 2022 13:10:46 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1011 1.0.2 Wed, 09 Feb 2022 00:00:00 -0000 DHCR7 602858 Smith-Lemli-Optiz Syndrome 270400 Released Complete Complete Complete Impaired development GroupA Dietary cholesterol supplementation GroupA 2 3C 3 0C 8CC AC1011 /AC1011 Gene-Condition Wed Jun 03 21:28:49 UTC 2020 Wed, 09 Feb 2022 13:10:46 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1011 1.0.2 Wed, 09 Feb 2022 00:00:00 -0000 DHCR7 602858 Smith-Lemli-Optiz Syndrome 270400 Released Complete Complete Complete Impaired growth GroupA Dietary cholesterol supplementation GroupA 1 3C 3 1N 8CN AC095 /AC095 Gene-Condition Thu Sep 07 00:00:00 UTC 2023 Wed, 03 Jan 2024 23:53:11 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC095 1.0.0 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 2C 3 2B 9CB AC1012 /AC1012 Gene-Condition Tue Jul 09 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:11:42 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 AC1024 /AC1024 Gene-Condition Tue Mar 09 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:22:43 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1024 1.0.2 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 2D 6DD AC1013 /AC1013 Gene-Condition Mon Dec 16 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:12:31 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 AC005 /AC005 Gene-Condition Mon Jul 09 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:21:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC005 1.2.4 Wed, 09 Feb 2022 00:00:00 -0000 SLC39A4 607059 Acrodermatitis enteropathica, zinc-deficiency type 201100 Released Complete Complete Complete Morbidity and mortality associated with zinc deficiency GroupA Zinc supplementation GroupA 2 3C 3 3C 11CC AC107 /AC107 Gene-Condition Fri Aug 26 00:00:00 UTC 2022 Sun, 24 Mar 2024 15:03:27 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC107 1.0.2 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 pulmonary AVMs GroupB Transthoracic contrast echocardiography (TTCE) to detect pulmonary AVM and assess pulmonary arterial hypertension (ACVRL1 or ENG only) GroupB 2 2N 3 3N 10NN AC107 /AC107 Gene-Condition Fri Aug 26 00:00:00 UTC 2022 Sun, 24 Mar 2024 15:03:27 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC107 1.0.2 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 cerebral AVMs GroupB Evaluation and surveillance by specialist to guide treatment with discussion about screening for cerebral AVM GroupB 2 1C 2 2C 7CC AC1014 /AC1014 Gene-Condition Mon Jun 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:13:31 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1014 1.0.3 Wed, 09 Feb 2022 00:00:00 -0000 OAT 613349 Gyrate Atrophy 258870 Released Complete Complete Complete Visual impairment GroupA Dietary management including arginine restriction and vitamin/amino acid supplementation GroupA 2 3C 3 2C 10CC AC1010 /AC1010 Gene-Condition Wed May 20 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:09:37 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1010 1.0.2 Wed, 09 Feb 2022 00:00:00 -0000 GALNS 612222 Mucopolysaccharidosis Type IVA 253000 Released Complete Complete Complete Functional somatic manifestations (as defined by quantitative measures of pulmonary function and 6-minute walk test) GroupA Enzyme replacement therapy (ERT) with elosulfase alfa GroupA 2 3C 2 2A 9CA AC1010 /AC1010 Gene-Condition Wed May 20 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:09:37 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1010 1.0.2 Wed, 09 Feb 2022 00:00:00 -0000 GALNS 612222 Mucopolysaccharidosis Type IVA 253000 Released Complete Complete Complete Early mortality GroupA Enzyme replacement therapy (ERT) with elosulfase alfa GroupA 2 3C 2 0D 7CD AC1038 /AC1038 Gene-Condition Sat May 29 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:27:42 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 AC1015 /AC1015 Gene-Condition Mon Nov 02 21:15:11 UTC 2020 Wed, 09 Feb 2022 13:14:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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, dermatologic, cardiac, and ophthalmologic sequalae GroupA Phytanic acid lowering therapy GroupA 2 3C 2 1C 8CC AC1018 /AC1018 Gene-Condition Thu Oct 29 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:16:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1018 1.0.3 Wed, 09 Feb 2022 00:00:00 -0000 CIB2,CABP2,CDH23,CLDN14,ESPN,ESRRB,GIPC3,GJB2,GRXCR1,ILDR1,LHFPL5,LRTOMT,MARVELD2,MYO15A,MYO3A,MYO6,OTOA,OTOG,OTOGL,PDZD7,POU3F4,PTPRQ,RDX,S1PR2,STRC,TECTA,TMC1,TMIE,TPRN,TRIOBP,PJVK 605564,607314,605516,605608,606351,602167,608792,121011,613283,609739,609427,612414,610572,602666,606808,600970,607038,604487,614925,612971,300039,603317,179410,605111,606440,602574,606706,607237,613354,609761,610219 Prelingual non-syndromic hearing loss and deafness 609439,614899,601386,614035,609006,608565,601869,220290,613285,609646,610265,611451,610153,600316,607101,606346,607039,614945,614944,618003,304400,613391,611022,610419,603720,601543,603629,600974,600971,613307,609823,610220 Released Complete Complete Complete Communication deficit GroupA Referral to multidisciplinary care team, as available, to facilitate communication development and discussion of other interventions (such as hearing aids, cochlear implants) GroupA 1 3N 3 3B 10NB AC1020 /AC1020 Gene-Condition Mon Oct 12 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:19:43 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 disorders of glucose and lipid metabolism GroupA Metabolic management (includes monitoring/treatment of hyperglycemia and hyperlipidemia) GroupA 1 3C 3 2C 9CC AC1020 /AC1020 Gene-Condition Mon Oct 12 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:19:43 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 sensory impairment GroupA Referral to a multidisciplinary care team, if available, and regular audiologic and ophthalmologic evaluations to optimize hearing and vision GroupA 1 2N 3 3C 9NC AC021 /AC021 Gene-Condition Wed Mar 31 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:27:46 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC021 1.0.2 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 2B 10CB AC1023 /AC1023 Gene-Condition Tue Mar 02 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:21:29 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1023 1.0.1 Wed, 09 Feb 2022 00:00:00 -0000 PTPN11 176876 Noonan Syndrome with Multiple Lentigines 176876 Released Complete Complete Complete Cardiac manifestations GroupA Cardiac surveillance including cardiac imaging and electrocardiogram GroupA 2 3C 3 0D 8CD AC1025 /AC1025 Gene-Condition Mon Jun 07 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:23:41 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1025 1.0.5 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 AC089 /AC089 Gene-Condition Mon Feb 17 00:00:00 UTC 2025 Wed, 18 Jun 2025 22:29:47 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC089 1.0.0 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 2N 3 1D 8ND AC1039 /AC1039 Gene-Condition Wed May 19 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:28:49 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1039 1.0.1 Wed, 09 Feb 2022 00:00:00 -0000 HADHA,HADHB 600890,143450 Disorders of the trifunctional protein complex 609015,609016,609015 Released Complete Complete Complete Morbidity associated with metabolic decompensation GroupA Metabolic management (dietary management and illness protocols) GroupA 2 3C 2 2A 9CA AC1039 /AC1039 Gene-Condition Wed May 19 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:28:49 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1039 1.0.1 Wed, 09 Feb 2022 00:00:00 -0000 HADHA,HADHB 600890,143450 Disorders of the trifunctional protein complex 609015,609016,609015 Released Complete Complete Complete Morbidity associated with metabolic decompensation GroupA Triheptanoin treatment GroupA 2 3C 2 2C 9CC AC1040 /AC1040 Gene-Condition Wed Jun 02 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:29:55 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1040 1.0.1 Wed, 09 Feb 2022 00:00:00 -0000 KIT,PDGFRA 164920,173490 Gastrointestinal stromal tumor (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 13:30:54 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1041 1.0.1 Wed, 09 Feb 2022 00:00:00 -0000 DBT,BCKDHA,BCKDHB 248610,608348,248611 Maple Syrup Urine Disease 248600,248600,248600 Released Complete Complete Complete Morbidity and mortality associated with metabolic decompensation GroupA Metabolic management (dietary management and illness protocols) GroupA 2 3D 2 2B 9DB AC114 /AC114 Gene-Condition Thu Nov 18 04:23:26 UTC 2021 Wed, 09 Feb 2022 13:38:32 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC114 1.0.1 Wed, 09 Feb 2022 00:00:00 -0000 HFE 613609 Hemochromatosis, Type 1 (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC115 /AC115 Gene-Condition Thu Jan 02 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:39:44 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC115 1.0.2 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 13:39:44 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC115 1.0.2 Wed, 09 Feb 2022 00:00:00 -0000 STK11 602216 Peutz-Jeghers Syndrome 175200 Released Complete Complete Complete Morbidity from intussusception GroupA Surveillance to detect polyps and guide initiation of polyp treatment GroupA 2 3C 2 2C 9CC AC009 /AC009 Gene-Condition Mon Nov 05 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:23:17 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC009 1.2.3 Wed, 09 Feb 2022 00:00:00 -0000 PHEX 300550 Hypophosphatemic rickets, X-linked dominant 307800 Released Complete Complete Complete Morbidity of XLHR (rickets, growth, bone/joint pain) GroupA Oral phosphate plus vitamin D analog supplements GroupA 2 3C 2 2C 9CC AC009 /AC009 Gene-Condition Mon Nov 05 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:23:17 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC009 1.2.3 Wed, 09 Feb 2022 00:00:00 -0000 PHEX 300550 Hypophosphatemic rickets, X-linked dominant 307800 Released Complete Complete Complete Rickets GroupA Borusumab GroupA 2 3C 2 2N 9CN AC1065 /AC1065 Variant-Condition Fri May 24 00:00:00 UTC 2024 Fri, 07 Feb 2025 21:38:26 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 Discussion in adolescence about infertility and potential for semen collection or testicular sperm extraction (TESE) and cryopreservation GroupA 1 3C 2 2A 8CA AC1065 /AC1065 Variant-Condition Fri May 24 00:00:00 UTC 2024 Fri, 07 Feb 2025 21:38:26 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 Endocrinologic morbidity GroupA Surveillance by specialist to identify and treat endocrinologic dysfunction GroupA 1 3C 3 3B 10CB AC134 /AC134 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:51:16 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC134 1.0.4 Wed, 09 Feb 2022 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 3C 12CC AC134 /AC134 Gene-Condition Fri Mar 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:51:16 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC134 1.0.4 Wed, 09 Feb 2022 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 3 3C 3 2B 11CB AC1003 /AC1003 Gene-Condition Mon Jul 01 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:03:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1003 1.0.3 Wed, 09 Feb 2022 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 AC025 /AC025 Gene-Condition Mon Sep 09 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:28:21 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC025 1.0.2 Wed, 09 Feb 2022 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 2A 3 2C 9AC AC1044 /AC1044 Gene-Condition Thu Nov 04 00:00:00 UTC 2021 Wed, 20 Apr 2022 21:05:20 -0000 Hunter Jessica Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 AC1044 /AC1044 Gene-Condition Thu Nov 04 00:00:00 UTC 2021 Wed, 20 Apr 2022 21:05:20 -0000 Hunter Jessica Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 Functional impairments from loss of hearing and vision GroupA Regular audiologic and ophthalmologic evaluations to optimize hearing and vision GroupA 2 2C 3 3B 10CB AC008 /AC008 Gene-Condition Thu Apr 13 00:00:00 UTC 2023 Wed, 21 Jun 2023 21:27:09 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC008 2.0.0 Wed, 21 Jun 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 3N 2 3C 10NC AC157 /AC157 Gene-Condition Mon Sep 17 00:00:00 UTC 2018 Wed, 09 Feb 2022 14:02:08 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC157 1.1.5 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 2 1D 8CD AC157 /AC157 Gene-Condition Mon Sep 17 00:00:00 UTC 2018 Wed, 09 Feb 2022 14:02:08 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC157 1.1.5 Wed, 09 Feb 2022 00:00:00 -0000 CP 117700 Aceruloplasminemia 604290 Released Complete Complete Complete Morbidity due to diabetes mellitus resulting from iron accumulation GroupA Screening for diabetes mellitus GroupA 2 3C 3 2C 10CC AC1061 /AC1061 Gene-Condition Mon Sep 11 00:00:00 UTC 2023 Tue, 13 Feb 2024 19:50:58 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 0D 3 2C 6DC AC1061 /AC1061 Gene-Condition Mon Sep 11 00:00:00 UTC 2023 Tue, 13 Feb 2024 19:50:58 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 pituitary adenoma GroupA Evaluation and management by specialists, including biochemical and endocrine surveillance and growth monitoring to guide treatment GroupA 1 3N 3 2C 9NC AC080 /AC080 Gene-Condition Wed Mar 06 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:51:15 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC080 1.0.4 Wed, 09 Feb 2022 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 Wed, 09 Feb 2022 12:51:15 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC080 1.0.4 Wed, 09 Feb 2022 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 2C 3 3D 10CD AC080 /AC080 Gene-Condition Wed Mar 06 00:00:00 UTC 2019 Wed, 09 Feb 2022 12:51:15 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC080 1.0.4 Wed, 09 Feb 2022 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 AC1045 /AC1045 Gene-Condition Thu Mar 10 00:00:00 UTC 2022 Thu, 21 Jul 2022 22:28:00 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1045 1.0.0 Thu, 21 Jul 2022 00:00:00 -0000 RPS19,RPS24,RPS10 603474,602412,603632 Diamond-Blackfan anemia 105650,610629,613308 Released Complete Complete Complete Morbidity and mortality due to hematopoietic manifestations GroupA Referral to specialist; initial treatment with corticosteroids and consideration of more intensive therapies (transfusion therapy, hematopoietic stem cell transplantation) in those without sustained response or who have unacceptable side effects GroupA 2 3C 1 3C 9CC AC006 /AC006 Gene-Condition Wed Aug 08 00:00:00 UTC 2018 Wed, 06 Apr 2022 22:00:35 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC006 1.1.3 Wed, 06 Apr 2022 00:00:00 -0000 IDUA 252800 Mucopolysaccharidosis type I 607014,607015,607016 Released Complete Complete Complete Severe neurocognitive delay GroupA Enzyme replacement therapy GroupA 2 3A 2 0A 7AA AC006 /AC006 Gene-Condition Wed Aug 08 00:00:00 UTC 2018 Wed, 06 Apr 2022 22:00:35 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC006 1.1.3 Wed, 06 Apr 2022 00:00:00 -0000 IDUA 252800 Mucopolysaccharidosis type I 607014,607015,607016 Released Complete Complete Complete Severe neurocognitive delay GroupA Hematopoietic stem cell transplantation before age 2.5 years GroupA 2 3A 1 2B 8AB AC006 /AC006 Gene-Condition Wed Aug 08 00:00:00 UTC 2018 Wed, 06 Apr 2022 22:00:35 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC006 1.1.3 Wed, 06 Apr 2022 00:00:00 -0000 IDUA 252800 Mucopolysaccharidosis type I 607014,607015,607016 Released Complete Complete Complete Death due to cardiorespiratory failure GroupA Enzyme replacement therapy GroupA 2 3C 2 1B 8CB AC006 /AC006 Gene-Condition Wed Aug 08 00:00:00 UTC 2018 Wed, 06 Apr 2022 22:00:35 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC006 1.1.3 Wed, 06 Apr 2022 00:00:00 -0000 IDUA 252800 Mucopolysaccharidosis type I 607014,607015,607016 Released Complete Complete Complete Death due to cardiorespiratory failure GroupA Hematopoietic stem cell transplantation before age 2.5 years GroupA 2 3C 1 2B 8CB AC1047 /AC1047 Gene-Condition Mon May 02 00:00:00 UTC 2022 Wed, 03 Aug 2022 20:56:36 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1047 1.0.0 Wed, 03 Aug 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 2 2B 3 3A 10BA AC086 /AC086 Gene-Condition Fri Jun 03 00:00:00 UTC 2022 Tue, 04 Oct 2022 20:25:17 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC086 1.0.0 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 0D 3 2N 7DN AC063 /AC063 Gene-Condition Wed Jul 15 00:00:00 UTC 2020 Tue, 29 Oct 2024 18:23:46 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC063 2.0.0 Tue, 29 Oct 2024 00:00:00 -0000 PMP22 601097 Hereditary Neuropathy with Liability to Pressure Palsies 162500 Released Complete Complete Complete Neuropathy GroupA Avoidance of triggers and neurotoxic drugs GroupA 1 3D 3 1D 8DD AC1043 /AC1043 Gene-Condition Wed Aug 18 00:00:00 UTC 2021 Thu, 20 Oct 2022 16:13:27 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 Avoidance of substances that can induce hemolysis GroupA 1 0D 3 3D 7DD AC1043 /AC1043 Gene-Condition Wed Aug 18 00:00:00 UTC 2021 Thu, 20 Oct 2022 16:13:27 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 from perioperative complications related to hemolysis GroupA Preoperative assessment of G6PD class to guide perioperative management GroupA 2 0D 3 2C 7DC AC066 /AC066 Gene-Condition Mon Oct 17 00:00:00 UTC 2022 Fri, 03 Feb 2023 19:08:55 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 2C 2 2B 8CB AC1009 /AC1009 Gene-Condition Thu Mar 12 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:07:47 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 Wed, 28 Jun 2023 17:13:13 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC028 1.0.1 Wed, 28 Jun 2023 00:00:00 -0000 ATP7B 606882 Wilson Disease 277900 Released Complete Complete Complete Morbidity and mortality from copper deposition GroupA Copper chelation and zinc therapy GroupA 2 3C 3 3A 11CA AC1032 /AC1032 Gene-Condition Mon Mar 31 00:00:00 UTC 2025 Wed, 06 Aug 2025 23:46:04 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1032 1.0.0 Wed, 06 Aug 2025 00:00:00 -0000 LPIN1 605518 LPIN1 Deficiency 268200 Released Complete Complete Complete Rhabdomyolysis GroupA Avoidance of triggers and emergency instructions for prompt medical management of episodes GroupA 2 0D 3 2C 7DC AC118 /AC118 Gene-Condition Mon Aug 12 00:00:00 UTC 2024 Mon, 09 Dec 2024 19:04:22 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC118 1.0.0 Mon, 09 Dec 2024 00:00:00 -0000 SLC25A13 603859 Citrin Deficiency 605814 Released Complete Complete Complete Morbidity due to citrin deficiency GroupA Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, emergency planning, and possible transplant GroupA 2 2D 2 2C 8DC AC048 /AC048 Gene-Condition Tue Oct 01 00:00:00 UTC 2019 Wed, 28 Jun 2023 17:13:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC048 1.0.6 Wed, 28 Jun 2023 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 3A 10CA AC1031 /AC1031 Gene-Condition Tue Aug 08 00:00:00 UTC 2023 Mon, 05 Feb 2024 22:08:29 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1031 1.0.0 Mon, 05 Feb 2024 00:00:00 -0000 LAMP2 309060 Danon disease 300257 Released Complete Complete Complete Morbidity and mortality from arrhythmias and heart failure (males) GroupA Evaluation by specialists to guide surveillance and treatment including consideration for implantable device or heart transplant GroupA 2 3C 1 2B 8CB AC1031 /AC1031 Gene-Condition Tue Aug 08 00:00:00 UTC 2023 Mon, 05 Feb 2024 22:08:29 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1031 1.0.0 Mon, 05 Feb 2024 00:00:00 -0000 LAMP2 309060 Danon disease 300257 Released Complete Complete Complete Morbidity and mortality from arrhythmias and heart failure (females) GroupA Evaluation by specialists to guide surveillance and treatment including consideration for implantable device or heart transplant GroupA 2 3C 1 2B 8CB AC131 /AC131 Gene-Condition Wed Aug 28 00:00:00 UTC 2019 Wed, 14 Jan 2026 19:40:38 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC131 1.0.4 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 Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC131 1.0.4 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 2N 10CN AC131 /AC131 Gene-Condition Wed Aug 28 00:00:00 UTC 2019 Wed, 14 Jan 2026 19:40:38 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC131 1.0.4 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 2A 10CA AC131 /AC131 Gene-Condition Wed Aug 28 00:00:00 UTC 2019 Wed, 14 Jan 2026 19:40:38 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC131 1.0.4 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 Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1008 1.1.0 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 2B 9CB AC1008 /AC1008 Gene-Condition Mon Oct 28 00:00:00 UTC 2019 Tue, 23 Sep 2025 22:24:52 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1008 1.1.0 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 1C 8CC AC098 /AC098 Gene-Condition Tue May 31 00:00:00 UTC 2022 Wed, 28 Jun 2023 17:14:43 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC098 1.0.1 Wed, 28 Jun 2023 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 2 3C 3 3C 11CC AC087 /AC087 Gene-Condition Mon Nov 07 00:00:00 UTC 2022 Tue, 07 Mar 2023 17:37:31 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC087 1.0.0 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 2C 3 0D 6CD AC087 /AC087 Gene-Condition Mon Nov 07 00:00:00 UTC 2022 Tue, 07 Mar 2023 17:37:31 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC087 1.0.0 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 3D 3 2B 9DB AC110 /AC110 Gene-Condition Mon Mar 27 00:00:00 UTC 2023 Wed, 28 Jun 2023 17:15:29 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC110 1.0.1 Wed, 28 Jun 2023 00:00:00 -0000 PAH 612349 Phenylketonuria (PKU) 261600 Released Complete Complete Complete PAH deficiency-related morbidity from elevated blood phenylalanine levels GroupA Evaluation and management by specialists to achieve target phenylalanine levels with dietary and/or pharmacologic therapies GroupA 2 3A 2 3A 10AA AC090 /AC090 Gene-Condition Fri May 12 00:00:00 UTC 2023 Fri, 28 Jul 2023 17:46:48 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC090 1.0.0 Fri, 28 Jul 2023 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 AC010 /AC010 Gene-Condition Wed Jul 11 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:24:21 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC010 1.2.3 Wed, 09 Feb 2022 00:00:00 -0000 FGF23 605380 Hypophosphatemic rickets, autosomal dominant 193100 Released Complete Complete Complete Morbidity of ADHR (rickets, growth, bone/joint pain) GroupA Oral phosphate plus vitamin D analog supplements GroupA 1 0C 2 0C 3CC AC097 /AC097 Gene-Condition Fri Jun 23 00:00:00 UTC 2023 Fri, 06 Oct 2023 17:08:00 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC097 1.0.0 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 with dietary and/or pharmacologic therapies GroupA 2 3C 2 2B 9CB AC097 /AC097 Gene-Condition Fri Jun 23 00:00:00 UTC 2023 Fri, 06 Oct 2023 17:08:00 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC097 1.0.0 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 2C 2 2B 8CB AC1054 /AC1054 Gene-Condition Mon Sep 12 16:18:07 UTC 2022 Tue, 29 Oct 2024 01:06:10 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1054 1.0.1 Mon, 28 Oct 2024 00:00:00 -0000 BARD1 601593 Hereditary breast carcinoma (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC091 /AC091 Gene-Condition Wed Jun 02 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:56:42 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC091 1.0.1 Wed, 09 Feb 2022 00:00:00 -0000 MET 164860 Familial papillary renal cell carcinoma 1 (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC1019 /AC1019 Gene-Condition Tue Jan 12 00:00:00 UTC 2021 Thu, 21 Apr 2022 16:42:17 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1019 1.0.3 Thu, 21 Apr 2022 00:00:00 -0000 SLC26A4 605646 Pendred syndrome 274600 Released Complete Complete Complete Communication Deficit GroupA Referral to multidisciplinary care team, as available, to facilitate communication development and discussion of other interventions (such as hearing aids, cochlear implants) GroupA 1 2C 3 3B 9CB AC112 /AC112 Gene-Condition Tue Nov 16 00:00:00 UTC 2021 Wed, 28 Jun 2023 17:15:52 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC112 1.0.1 Wed, 28 Jun 2023 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 3A 2 3B 10AB AC112 /AC112 Gene-Condition Tue Nov 16 00:00:00 UTC 2021 Wed, 28 Jun 2023 17:15:52 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC112 1.0.1 Wed, 28 Jun 2023 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 2D 2 3B 9DB AC039 /AC039 Gene-Condition Tue Mar 17 00:00:00 UTC 2020 Wed, 09 Feb 2022 12:31:53 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC039 1.0.2 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 2C 3 2B 10CB AC1052 /AC1052 Gene-Condition Mon Feb 12 00:00:00 UTC 2024 Thu, 06 Jun 2024 21:36:15 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1052 1.0.0 Thu, 06 Jun 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 3C 2 2C 9CC AC128 /AC128 Gene-Condition Wed Jan 15 00:00:00 UTC 2025 Fri, 09 May 2025 15:56:14 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC128 1.0.0 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 2 3C 3 3C 11CC AC041 /AC041 Gene-Condition Wed Mar 22 00:00:00 UTC 2023 Mon, 08 Jan 2024 23:26:41 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC041 1.0.1 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 1 2A 3 2C 8AC AC012 /AC012 Gene-Condition Mon Feb 25 00:00:00 UTC 2019 Wed, 24 Sep 2025 21:01:20 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC012 1.3.0 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 AC1046 /AC1046 Gene-Condition Wed Mar 16 00:00:00 UTC 2022 Sun, 24 Mar 2024 15:02:14 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 3A 2 2B 9AB AC065 /AC065 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Wed, 03 May 2023 21:10:18 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC065 1.0.3 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 medications and diet to FH appropriate LDL-C goal GroupA 2 3C 2 2A 9CA AC065 /AC065 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Wed, 03 May 2023 21:10:18 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC065 1.0.3 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 2 3C 2 3A 10CA AC1026 /AC1026 Gene-Condition Tue Jun 01 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:24:29 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1026 1.0.3 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 AC027 /AC027 Gene-Condition Tue Jan 04 00:00:00 UTC 2022 Thu, 17 Mar 2022 19:30:12 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC027 1.0.0 Thu, 17 Mar 2022 00:00:00 -0000 VHL 608537 Von Hippel-Lindau Syndrome 193300 Released Complete Complete Complete Morbidity and mortality from CNS hemangioblastomas GroupA Imaging to detect CNS hemangioblastomas and guide treatment GroupA 2 3A 2 2B 9AB AC027 /AC027 Gene-Condition Tue Jan 04 00:00:00 UTC 2022 Thu, 17 Mar 2022 19:30:12 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC027 1.0.0 Thu, 17 Mar 2022 00:00:00 -0000 VHL 608537 Von Hippel-Lindau Syndrome 193300 Released Complete Complete Complete Morbidity (retinal detachment and vision loss) from retinal hemangioblastomas GroupA Evaluation by specialist and dilated retinal exam to detect lesions and guide treatment GroupA 2 2C 2 2D 8CD AC027 /AC027 Gene-Condition Tue Jan 04 00:00:00 UTC 2022 Thu, 17 Mar 2022 19:30:12 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC027 1.0.0 Thu, 17 Mar 2022 00:00:00 -0000 VHL 608537 Von Hippel-Lindau Syndrome 193300 Released Complete Complete Complete Morbidity and mortality from non-CNS VHL-related tumors GroupA Evaluation by specialist and imaging to detect tumors (or precursors) and guide treatment GroupA 2 2A 2 2B 8AB AC068 /AC068 Gene-Condition Fri Mar 26 00:00:00 UTC 2021 Sun, 24 Mar 2024 15:00:29 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC068 1.0.3 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 15:00:29 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC068 1.0.3 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 3 0B 8CB AC154 /AC154 Gene-Condition Wed Mar 04 00:00:00 UTC 2026 Fri, 06 Mar 2026 00:35:59 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC154 1.0.0 Thu, 05 Mar 2026 00:00:00 -0000 GREM1 603054 Hereditary mixed polyposis syndrome 1 (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC1036 /AC1036 Gene-Condition Thu Mar 21 00:00:00 UTC 2024 Mon, 12 Aug 2024 17:28:28 -0000 Reynolds Elizabeth Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1036 1.0.0 Mon, 12 Aug 2024 00:00:00 -0000 SLC2A1 138140 GLUT1 deficiency syndrome 606777 Released Complete Incomplete Incomplete Morbidity due to seizures in Glut1DS GroupA Evaluation by specialists for expert management, including initiation of diet GroupA 2 3C 2 3B 10CB AC1055 /AC1055 Gene-Condition Wed Aug 24 00:00:00 UTC 2022 Sun, 24 Mar 2024 15:02:31 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1055 1.0.2 Sun, 24 Mar 2024 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 neoplasia GroupA Evaluation and multi-modal neoplasia surveillance by specialist(s) to guide treatment GroupA 2 3C 2 2N 9CN AC026 /AC026 Gene-Condition Fri Dec 17 00:00:00 UTC 2021 Tue, 21 Feb 2023 12:49:18 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC026 1.0.1 Tue, 21 Feb 2023 00:00:00 -0000 TSC1,TSC2 605284,191092 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 AC026 /AC026 Gene-Condition Fri Dec 17 00:00:00 UTC 2021 Tue, 21 Feb 2023 12:49:18 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC026 1.0.1 Tue, 21 Feb 2023 00:00:00 -0000 TSC1,TSC2 605284,191092 Tuberous Sclerosis Complex (TSC) 191100,613254 Released Complete Complete Complete Morbidity and mortality from infantile spasms GroupA Evaluation by specialist with testing to guide possible use of vigabatrin GroupA 2 3C 2 3B 10CB AC145 /AC145 Gene-Condition Thu Oct 24 00:00:00 UTC 2019 Sat, 06 Jan 2024 00:31:55 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC145 1.0.4 Fri, 05 Jan 2024 00:00:00 -0000 TTR 176300 Hereditary transthyretin-related amyloidosis (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC1051 /AC1051 Gene-Condition Tue Dec 17 00:00:00 UTC 2024 Tue, 22 Apr 2025 13:20:41 -0000 Reynolds Elizabeth Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1051 1.0.0 Tue, 22 Apr 2025 00:00:00 -0000 ARG1 608313 Hyperargininemia 207800 Released Complete Incomplete Complete Morbidity due to hyperargininemia GroupA Surveillance by specialists to guide management, including diet, supplements, nitrogen scavengers, and emergency planning GroupA 2 2A 2 1A 7AA AC1037 /AC1037 Gene-Condition Tue Nov 28 00:00:00 UTC 2023 Wed, 05 Jun 2024 20:58:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1037 1.0.0 Wed, 05 Jun 2024 00:00:00 -0000 GAMT 601240 Cerebral creatine deficiency syndromes 612736 Released Complete Complete Complete Morbidity due to creatine biosynthesis deficiency (GAMT deficiency) GroupD Referral to specialist to guide creatine supplementation and dietary management GroupD 2 3C 2 2C 9CC AC1037 /AC1037 Gene-Condition Tue Nov 28 00:00:00 UTC 2023 Wed, 05 Jun 2024 20:58:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1037 1.0.0 Wed, 05 Jun 2024 00:00:00 -0000 GATM 602360 Cerebral creatine deficiency syndromes 612718 Released Complete Complete Complete Morbidity due to creatine biosynthesis deficiency (AGAT deficiency) GroupE Referral to specialist to guide creatine supplementation GroupE 2 2C 2 2C 8CC AC1037 /AC1037 Gene-Condition Tue Nov 28 00:00:00 UTC 2023 Wed, 05 Jun 2024 20:58:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1037 1.0.0 Wed, 05 Jun 2024 00:00:00 -0000 SLC6A8 300036 Cerebral creatine deficiency syndromes 300352 Released Complete Complete Complete Morbidity due to creatine transporter deficiency (males only) (CRTR deficiency) GroupC Referral to specialist to guide creatine, arginine, and glycine supplementation GroupC 2 3C 2 1C 8CC AC117 /AC117 Gene-Condition Fri Dec 01 00:00:00 UTC 2023 Mon, 15 Apr 2024 20:41:31 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC117 1.0.0 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 3C 2 2B 9CB AC117 /AC117 Gene-Condition Fri Dec 01 00:00:00 UTC 2023 Mon, 15 Apr 2024 20:41:31 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC117 1.0.0 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 2 3C 3 3B 11CB AC003 /AC003 Gene-Condition Thu May 17 00:00:00 UTC 2018 Wed, 09 Feb 2022 12:21:04 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC003 1.2.4 Wed, 09 Feb 2022 00:00:00 -0000 WT1 607102 Wilms tumor 194070 Released Complete Complete Complete Morbidity and mortality from WT GroupA Surveillance via abdominal ultrasound GroupA 2 3N 2 0N 7NN AC119 /AC119 Gene-Condition Tue Nov 28 00:00:00 UTC 2023 Tue, 30 Apr 2024 19:03:58 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC119 1.0.0 Tue, 30 Apr 2024 00:00:00 -0000 CDC73 607393 CDC73-Related Conditions 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 1 2N 3 2C 8NC AC119 /AC119 Gene-Condition Tue Nov 28 00:00:00 UTC 2023 Tue, 30 Apr 2024 19:03:58 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC119 1.0.0 Tue, 30 Apr 2024 00:00:00 -0000 CDC73 607393 CDC73-Related Conditions 145001,608266 Released Complete Complete Complete Morbidity from parathyroid adenoma GroupA Evaluation and management by specialists, including biochemical surveillance to guide imaging and parathyroidectomy GroupA 2 2C 3 3C 10CC AC119 /AC119 Gene-Condition Tue Nov 28 00:00:00 UTC 2023 Tue, 30 Apr 2024 19:03:58 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC119 1.0.0 Tue, 30 Apr 2024 00:00:00 -0000 CDC73 607393 CDC73-Related Conditions 145001,608266 Released Complete Complete Complete Morbidity from parathyroid carcinoma GroupA Evaluation and management by specialists, including biochemical and imaging surveillance to guide surgery GroupA 2 0D 3 2C 7DC AC116 /AC116 Gene-Condition Tue Jul 29 00:00:00 UTC 2025 Mon, 17 Nov 2025 23:37:50 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC116 1.0.0 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 2C 2 0D 6CD AC129 /AC129 Gene-Condition Tue Mar 19 00:00:00 UTC 2024 Fri, 16 Aug 2024 16:00:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC129 1.0.0 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 3N 3 1A 8NA AC129 /AC129 Gene-Condition Tue Mar 19 00:00:00 UTC 2024 Fri, 16 Aug 2024 16:00:25 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC129 1.0.0 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 1B 8CB AC1042 /AC1042 Gene-Condition Thu Sep 02 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:32:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 2N 9CN AC1042 /AC1042 Gene-Condition Thu Sep 02 00:00:00 UTC 2021 Wed, 09 Feb 2022 13:32:05 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 2C 9CC AC132 /AC132 Gene-Condition Wed Sep 02 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:49:33 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC132 1.0.1 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 2C 3 1D 9CD AC1084 /AC1084 Gene-Condition Thu Jul 10 00:00:00 UTC 2025 Thu, 18 Dec 2025 19:20:12 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 3B 11CB AC1056 /AC1056 Gene-Condition Tue Jan 03 00:00:00 UTC 2023 Thu, 27 Apr 2023 19:22:52 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 3N 2 3C 10NC AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 from respiratory tract manifestations GroupB Evaluation by specialist(s) to guide diagnostic confirmation and treatment GroupB 2 3A 2 2C 9AC AC1007 /AC1007 Gene-Condition Tue Nov 15 00:00:00 UTC 2022 Sat, 25 Feb 2023 02:28:47 -0000 Henninger Michelle Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 from heterotaxy GroupB Evaluation by imaging/echocardiogram GroupB 2 2N 3 3N 10NN AC1057 /AC1057 Gene-Condition Tue Aug 13 00:00:00 UTC 2024 Thu, 21 Nov 2024 13:36:44 -0000 Reynolds Elizabeth Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1057 1.0.0 Thu, 21 Nov 2024 00:00:00 -0000 ALK 105590 Susceptibility to neuroblastoma-3 613014 Released Complete Incomplete Complete Morbidity and mortality from neuroblastic tumors GroupA Surveillance to identify tumor and guide multimodal treatment GroupA 2 3B 3 0D 8BD AC099 /AC099 Gene-Condition Mon May 15 00:00:00 UTC 2023 Fri, 06 Dec 2024 00:17:26 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC099 1.0.1 Thu, 05 Dec 2024 00:00:00 -0000 NOTCH3 600276 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukocenphalopathy, type 1 (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC136 /AC136 Gene-Condition Wed Jun 04 21:11:38 UTC 2025 Wed, 04 Jun 2025 21:14:53 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC136 1.0.0 Wed, 04 Jun 2025 00:00:00 -0000 BRIP1,RAD51C,RAD51D 605882,602774,602954 Ovarian cancer (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC1081 /AC1081 Gene-Condition Fri Nov 08 00:00:00 UTC 2024 Fri, 23 May 2025 17:43:12 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 2N 2 3A 9NA AC1081 /AC1081 Gene-Condition Fri Nov 08 00:00:00 UTC 2024 Fri, 23 May 2025 17:43:12 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 2A 9AA AC069 /AC069 Gene-Condition Wed Sep 15 22:19:57 UTC 2021 Wed, 09 Feb 2022 12:46:25 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC069 1.0.1 Wed, 09 Feb 2022 00:00:00 -0000 EPCAM,MLH1,MSH2,MSH6,PMS2 185535,120436,609309,600678,600259 Lynch Syndrome (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 13:26:30 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1028 1.0.1 Wed, 09 Feb 2022 00:00:00 -0000 ASL 608310 Argininosuccinate Lyase Deficiency 207900 Released Complete Complete Complete Morbidity and mortality due to hyperammonemic crises GroupA Referral to specialty team to guide dietary management and arginine and emergency management to mitigate hyperammonemic crises GroupA 2 3N 2 2C 9NC AC093 /AC093 Gene-Condition Mon Aug 26 00:00:00 UTC 2024 Fri, 20 Dec 2024 19:52:26 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC093 1.0.0 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 3 2B 9AB AC1034 /AC1034 Gene-Condition Wed May 21 00:00:00 UTC 2025 Wed, 03 Sep 2025 22:14:02 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1034 1.0.0 Wed, 03 Sep 2025 00:00:00 -0000 SCN1A 182389 Dravet syndrome 607208,604403,619317 Released Complete Complete Complete Morbidity and mortality due to SCN1A-related seizures GroupB Referral to specialist to guide treatment with anti-seizure medications GroupB 3 2C 2 2B 9CB AC108 /AC108 Gene-Condition Wed Sep 15 22:14:33 UTC 2021 Fri, 19 Sep 2025 19:31:21 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC108 1.1.0 Fri, 19 Sep 2025 00:00:00 -0000 PALB2 610355 PALB2-related cancers (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC103 /AC103 Gene-Condition Tue Jun 04 00:00:00 UTC 2019 Wed, 20 Dec 2023 18:09:33 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC103 1.0.1 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 0C 2 1B 5CB AC004 /AC004 Gene-Condition Thu Jan 09 00:00:00 UTC 2025 Wed, 21 May 2025 19:07:23 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC004 2.0.0 Wed, 21 May 2025 00:00:00 -0000 ALPL 171760 Hypophosphatasia 241500,241510,146300 Released Complete Complete Complete Morbidity and mortality from hypophosphatasia GroupC Referral to specialist to consider enzyme replacement therapy GroupC 1 3C 2 3A 9CA AC070 /AC070 Gene-Condition Mon Feb 10 00:00:00 UTC 2020 Wed, 09 Feb 2022 12:47:32 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC070 1.0.2 Wed, 09 Feb 2022 00:00:00 -0000 MUTYH 604933 MUTYH-Associated Polyposis (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC1017 /AC1017 Gene-Condition Mon Oct 26 00:00:00 UTC 2020 Sun, 24 Mar 2024 15:01:39 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1017 1.0.4 Sun, 24 Mar 2024 00:00:00 -0000 ASS1 603470 Citrullinemia 215700 Released Complete Complete Complete Morbidity and mortality due to hyperammonemic crises GroupA Referral to specialist to guide dietary management, arginine, and nitrogen scavengers and emergency management to mitigate hyperammonemic crises GroupA 2 3C 2 3B 10CB AC1005 /AC1005 Gene-Condition Thu Jan 30 00:00:00 UTC 2020 Wed, 09 Feb 2022 13:05:11 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 AC127 /AC127 Gene-Condition Wed Jun 04 20:52:15 UTC 2025 Wed, 04 Jun 2025 20:57:26 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC127 1.0.0 Wed, 04 Jun 2025 00:00:00 -0000 ATM,CHEK2 607585,604373 Breast Cancer (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC1027 /AC1027 Gene-Condition Mon Jun 21 00:00:00 UTC 2021 Fri, 30 May 2025 14:30:36 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 AC106 /AC106 Gene-Condition Wed Jun 04 21:17:50 UTC 2025 Wed, 04 Jun 2025 21:28:24 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC106 1.0.0 Wed, 04 Jun 2025 00:00:00 -0000 F5 612309 Factor V Leiden, Heterozygous (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC122 /AC122 Gene-Condition Wed Jun 26 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:43:57 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC122 1.0.4 Wed, 09 Feb 2022 00:00:00 -0000 MUT,MMAA,MMAB,MMADHC,MCEE 609058,607481,607568,611935,608419 Methylmalonic Acidemia 251000,251100,251110,277410,251120 Released Complete Complete Complete Morbidity (B12 responsive and unresponsive form) GroupA Metabolic management (includes dietary modification, l-carnitine, antibiotics) GroupA 2 3C 2 2B 9CB AC122 /AC122 Gene-Condition Wed Jun 26 00:00:00 UTC 2019 Wed, 09 Feb 2022 13:43:57 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC122 1.0.4 Wed, 09 Feb 2022 00:00:00 -0000 MUT,MMAA,MMAB,MMADHC,MCEE 609058,607481,607568,611935,608419 Methylmalonic Acidemia 251000,251100,251110,277410,251120 Released Complete Complete Complete Morbidity (B12 responsive only) GroupA Injectable vitamin B12 GroupA 2 3C 3 2B 10CB AC104 /AC104 Gene-Condition Thu Dec 08 00:00:00 UTC 2022 Fri, 22 Dec 2023 01:03:05 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC104 1.0.2 Thu, 21 Dec 2023 00:00:00 -0000 GBA 606463 Gaucher Disease 230900 Released Complete Complete Complete Morbidity due to non-neurological manifestations (including hematological, visceral, and skeletal disease) GroupA Referral to specialists for surveillance and initiation of enzyme replacement therapy, when indicated GroupA 2 3C 2 3A 10CA AC1048 /AC1048 Gene-Condition Mon Feb 05 00:00:00 UTC 2024 Wed, 07 Aug 2024 16:49:18 -0000 Reynolds Elizabeth Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 3C 11NC AC1048 /AC1048 Gene-Condition Mon Feb 05 00:00:00 UTC 2024 Wed, 07 Aug 2024 16:49:18 -0000 Reynolds Elizabeth Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/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 management GroupA 2 3N 3 2C 10NC AC002 /AC002 Gene-Condition Wed May 29 00:00:00 UTC 2019 Tue, 23 Jul 2024 19:18:39 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC002 1.1.5 Tue, 23 Jul 2024 00:00:00 -0000 DICER1 606241 DICER1-Related Disorders 138800,180295,601200 Released Complete Complete Complete Morbidity and mortality from pleuropulmonary blastoma GroupA Chest imaging GroupA 2 2N 2 2B 8NB AC002 /AC002 Gene-Condition Wed May 29 00:00:00 UTC 2019 Tue, 23 Jul 2024 19:18:39 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC002 1.1.5 Tue, 23 Jul 2024 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 2C 2 2D 8CD AC057 /AC057 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Wed, 03 May 2023 21:10:08 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC057 1.0.3 Wed, 03 May 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 2A 10CA AC1029 /AC1029 Gene-Condition Mon Nov 18 00:00:00 UTC 2024 Tue, 25 Feb 2025 19:21:01 -0000 Reynolds Elizabeth Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1029 1.0.0 Tue, 25 Feb 2025 00:00:00 -0000 GLDC,AMT 238300,238310 Glycine encephalopathy 605899,620398 Released Complete Incomplete Complete Morbidity and mortality due to glycine encephalopathy GroupC Referral to specialist to guide management. GroupC 1 3N 2 1C 7NC AC126 /AC126 Gene-Condition Sat Mar 08 00:00:00 UTC 2025 Wed, 13 Aug 2025 22:58:40 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC126 1.0.0 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 2C 2 2B 8CB AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 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 1C 2 0D 6CD AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 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 1C 2 2B 8CB AC138 /AC138 Gene-Condition Thu Aug 21 00:00:00 UTC 2025 Tue, 24 Feb 2026 19:30:33 -0000 Cope Heidi Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138 1.0.0 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 0D 2 2C 6DC AC1060 /AC1060 Gene-Condition Wed Mar 04 00:00:00 UTC 2026 Fri, 06 Mar 2026 00:31:20 -0000 Gilmore Mari Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1060 1.0.0 Thu, 05 Mar 2026 00:00:00 -0000 CDK4 123829 Cutaneous malignant melanoma-3 (CMM3) (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC1016 /AC1016 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Mon, 16 Oct 2023 20:13:06 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1016 1.0.3 Mon, 16 Oct 2023 00:00:00 -0000 ACADM 607008 Medium-chain acyl coenzyme A dehydrogenase deficiency 201450 Released Complete Complete Complete Morbidity associated with metabolic decompensation GroupA Metabolic management (dietary management and illness protocols) GroupA 2 3N 3 3B 11NB AC1016 /AC1016 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Mon, 16 Oct 2023 20:13:06 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1016 1.0.3 Mon, 16 Oct 2023 00:00:00 -0000 ACADM 607008 Medium-chain acyl coenzyme A dehydrogenase deficiency 201450 Released Complete Complete Complete Morbidity associated with metabolic decompensation GroupA Carnitine therapy when carnitine levels are insufficient GroupA 2 3N 3 0D 8ND AC1016 /AC1016 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Mon, 16 Oct 2023 20:13:06 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1016 1.0.3 Mon, 16 Oct 2023 00:00:00 -0000 ACADM 607008 Medium-chain acyl coenzyme A dehydrogenase deficiency 201450 Released Complete Complete Complete Mortality associated with metabolic decompensation GroupA Metabolic management (dietary management and illness protocols) GroupA 3 2C 3 3B 11CB AC1016 /AC1016 Gene-Condition Mon Aug 03 00:00:00 UTC 2020 Mon, 16 Oct 2023 20:13:06 -0000 Pak Christine Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC1016 1.0.3 Mon, 16 Oct 2023 00:00:00 -0000 ACADM 607008 Medium-chain acyl coenzyme A dehydrogenase deficiency 201450 Released Complete Complete Complete Mortality associated with metabolic decompensation GroupA Carnitine therapy when carnitine levels are insufficient GroupA 3 2C 3 0D 8CD AC075 /AC075 Gene-Condition Thu Dec 22 00:00:00 UTC 2022 Wed, 14 Jan 2026 00:01:43 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC075 1.0.1 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 treatment with sulfonylureas GroupA 1 3N 3 3C 10NC AC075 /AC075 Gene-Condition Thu Dec 22 00:00:00 UTC 2022 Wed, 14 Jan 2026 00:01:43 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC075 1.0.1 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 treatment with sulfonylureas GroupB 1 3N 3 3C 10NC AC133 /AC133 Gene-Condition Wed Sep 15 22:13:45 UTC 2021 Thu, 14 Aug 2025 23:31:35 -0000 Jenkins Charisma Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC133 1.0.3 Thu, 14 Aug 2025 00:00:00 -0000 BRCA1,BRCA2 113705,600185 Hereditary Breast and Ovarian Cancer (No paired disease(s) for gene) Released Failed Incomplete Incomplete N/A N/A AC076 /AC076 Gene-Condition Tue Jan 12 00:00:00 UTC 2021 Wed, 09 Feb 2022 12:49:28 -0000 Administrator Account Genboree Pediatric https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC076 1.0.1 Wed, 09 Feb 2022 00:00:00 -0000 CACNA1S,RYR1 114208,180901 Malignant Hyperthermia Susceptibility 601887,145600 Released Complete Complete Complete Malignant hyperthermia event GroupA Avoidance of triggering anesthetics GroupA 2 2C 3 3B 10CB