{
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    [ "AC100", "/AC100", "Gene-Condition", "Fri, 01 Mar 2019 00:00:00 -0000", "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, 16 Nov 2018 00:00:00 -0000", "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, 17 Jan 2019 00:00:00 -0000", "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, 17 Jan 2019 00:00:00 -0000", "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, 06 Mar 2019 00:00:00 -0000", "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, 06 Mar 2019 00:00:00 -0000", "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, 10 Oct 2019 00:00:00 -0000", "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, 10 Oct 2019 00:00:00 -0000", "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, 11 Mar 2021 00:00:00 -0000", "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, 11 Mar 2021 00:00:00 -0000", "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, 27 Nov 2018 00:00:00 -0000", "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, 27 Nov 2018 00:00:00 -0000", "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, 11 Dec 2019 00:00:00 -0000", "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, 11 Dec 2019 00:00:00 -0000", "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, 11 Dec 2019 00:00:00 -0000", "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, 11 Dec 2019 00:00:00 -0000", "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, 11 Dec 2019 00:00:00 -0000", "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, 11 Dec 2019 00:00:00 -0000", "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, 01 Mar 2019 00:00:00 -0000", "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, 01 Mar 2019 00:00:00 -0000", "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, 15 Jan 2019 00:00:00 -0000", "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, 15 Jan 2019 00:00:00 -0000", "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, 15 Jan 2019 00:00:00 -0000", "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, 30 Apr 2018 00:00:00 -0000", "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, 30 Apr 2018 00:00:00 -0000", "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, 17 Apr 2019 00:00:00 -0000", "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, 17 Apr 2019 00:00:00 -0000", "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, 15 May 2023 00:00:00 -0000", "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, 29 May 2019 00:00:00 -0000", "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, 26 Dec 2020 00:00:00 -0000", "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, 26 Dec 2020 00:00:00 -0000", "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, 06 Aug 2019 00:00:00 -0000", "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, 06 Aug 2019 00:00:00 -0000", "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, 03 Jun 2020 21:28:49 -0000", "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, 03 Jun 2020 21:28:49 -0000", "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, 07 Sep 2023 00:00:00 -0000", "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, 09 Jul 2019 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC1024", "/AC1024", "Gene-Condition", "Tue, 09 Mar 2021 00:00:00 -0000", "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, 16 Dec 2019 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC005", "/AC005", "Gene-Condition", "Mon, 09 Jul 2018 00:00:00 -0000", "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, 26 Aug 2022 00:00:00 -0000", "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, 26 Aug 2022 00:00:00 -0000", "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, 29 Jun 2020 00:00:00 -0000", "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, 20 May 2020 00:00:00 -0000", "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, 20 May 2020 00:00:00 -0000", "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, 29 May 2021 00:00:00 -0000", "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, 02 Nov 2020 21:15:11 -0000", "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, 29 Oct 2020 00:00:00 -0000", "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, 12 Oct 2020 00:00:00 -0000", "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, 12 Oct 2020 00:00:00 -0000", "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, 31 Mar 2021 00:00:00 -0000", "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, 02 Mar 2021 00:00:00 -0000", "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, 07 Jun 2021 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC089", "/AC089", "Gene-Condition", "Mon, 17 Feb 2025 00:00:00 -0000", "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, 19 May 2021 00:00:00 -0000", "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, 19 May 2021 00:00:00 -0000", "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, 02 Jun 2021 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC1041", "/AC1041", "Gene-Condition", "Mon, 28 Jun 2021 00:00:00 -0000", "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, 18 Nov 2021 04:23:26 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC115", "/AC115", "Gene-Condition", "Thu, 02 Jan 2020 00:00:00 -0000", "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, 02 Jan 2020 00:00:00 -0000", "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, 05 Nov 2018 00:00:00 -0000", "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, 05 Nov 2018 00:00:00 -0000", "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, 24 May 2024 00:00:00 -0000", "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, 24 May 2024 00:00:00 -0000", "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, 01 Mar 2019 00:00:00 -0000", "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, 01 Mar 2019 00:00:00 -0000", "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, 01 Jul 2019 00:00:00 -0000", "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, 09 Sep 2019 00:00:00 -0000", "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, 04 Nov 2021 00:00:00 -0000", "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, 04 Nov 2021 00:00:00 -0000", "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, 13 Apr 2023 00:00:00 -0000", "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, 17 Sep 2018 00:00:00 -0000", "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, 17 Sep 2018 00:00:00 -0000", "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, 11 Sep 2023 00:00:00 -0000", "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, 11 Sep 2023 00:00:00 -0000", "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, 06 Mar 2019 00:00:00 -0000", "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, 06 Mar 2019 00:00:00 -0000", "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, 06 Mar 2019 00:00:00 -0000", "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, 10 Mar 2022 00:00:00 -0000", "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, 08 Aug 2018 00:00:00 -0000", "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, 08 Aug 2018 00:00:00 -0000", "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, 08 Aug 2018 00:00:00 -0000", "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, 08 Aug 2018 00:00:00 -0000", "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, 02 May 2022 00:00:00 -0000", "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, 03 Jun 2022 00:00:00 -0000", "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, 15 Jul 2020 00:00:00 -0000", "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, 18 Aug 2021 00:00:00 -0000", "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, 18 Aug 2021 00:00:00 -0000", "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, 17 Oct 2022 00:00:00 -0000", "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, 12 Mar 2020 00:00:00 -0000", "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, 14 Feb 2022 00:00:00 -0000", "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, 31 Mar 2025 00:00:00 -0000", "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, 12 Aug 2024 00:00:00 -0000", "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, 01 Oct 2019 00:00:00 -0000", "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, 08 Aug 2023 00:00:00 -0000", "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, 08 Aug 2023 00:00:00 -0000", "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, 28 Aug 2019 00:00:00 -0000", "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, 28 Aug 2019 00:00:00 -0000", "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, 28 Aug 2019 00:00:00 -0000", "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, 28 Aug 2019 00:00:00 -0000", "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, 28 Oct 2019 00:00:00 -0000", "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, 28 Oct 2019 00:00:00 -0000", "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, 31 May 2022 00:00:00 -0000", "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, 07 Nov 2022 00:00:00 -0000", "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, 07 Nov 2022 00:00:00 -0000", "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, 27 Mar 2023 00:00:00 -0000", "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, 12 May 2023 00:00:00 -0000", "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, 11 Jul 2018 00:00:00 -0000", "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, 23 Jun 2023 00:00:00 -0000", "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, 23 Jun 2023 00:00:00 -0000", "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, 12 Sep 2022 16:18:07 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC091", "/AC091", "Gene-Condition", "Wed, 02 Jun 2021 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC1019", "/AC1019", "Gene-Condition", "Tue, 12 Jan 2021 00:00:00 -0000", "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, 16 Nov 2021 00:00:00 -0000", "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, 16 Nov 2021 00:00:00 -0000", "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, 17 Mar 2020 00:00:00 -0000", "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, 12 Feb 2024 00:00:00 -0000", "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, 15 Jan 2025 00:00:00 -0000", "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, 22 Mar 2023 00:00:00 -0000", "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, 25 Feb 2019 00:00:00 -0000", "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, 16 Mar 2022 00:00:00 -0000", "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, 03 Aug 2020 00:00:00 -0000", "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, 03 Aug 2020 00:00:00 -0000", "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, 01 Jun 2021 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC027", "/AC027", "Gene-Condition", "Tue, 04 Jan 2022 00:00:00 -0000", "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, 04 Jan 2022 00:00:00 -0000", "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, 04 Jan 2022 00:00:00 -0000", "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, 26 Mar 2021 00:00:00 -0000", "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, 26 Mar 2021 00:00:00 -0000", "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, 04 Mar 2026 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC1036", "/AC1036", "Gene-Condition", "Thu, 21 Mar 2024 00:00:00 -0000", "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, 24 Aug 2022 00:00:00 -0000", "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, 17 Dec 2021 00:00:00 -0000", "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, 17 Dec 2021 00:00:00 -0000", "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, 24 Oct 2019 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC1051", "/AC1051", "Gene-Condition", "Tue, 17 Dec 2024 00:00:00 -0000", "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, 28 Nov 2023 00:00:00 -0000", "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, 28 Nov 2023 00:00:00 -0000", "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, 28 Nov 2023 00:00:00 -0000", "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, 01 Dec 2023 00:00:00 -0000", "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, 01 Dec 2023 00:00:00 -0000", "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, 17 May 2018 00:00:00 -0000", "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, 28 Nov 2023 00:00:00 -0000", "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, 28 Nov 2023 00:00:00 -0000", "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, 28 Nov 2023 00:00:00 -0000", "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, 29 Jul 2025 00:00:00 -0000", "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, 19 Mar 2024 00:00:00 -0000", "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, 19 Mar 2024 00:00:00 -0000", "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, 02 Sep 2021 00:00:00 -0000", "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, 02 Sep 2021 00:00:00 -0000", "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, 02 Sep 2020 00:00:00 -0000", "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, 10 Jul 2025 00:00:00 -0000", "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, 03 Jan 2023 00:00:00 -0000", "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, 15 Nov 2022 00:00:00 -0000", "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, 15 Nov 2022 00:00:00 -0000", "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, 13 Aug 2024 00:00:00 -0000", "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, 15 May 2023 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC136", "/AC136", "Gene-Condition", "Wed, 04 Jun 2025 21:11:38 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC1081", "/AC1081", "Gene-Condition", "Fri, 08 Nov 2024 00:00:00 -0000", "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, 08 Nov 2024 00:00:00 -0000", "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, 15 Sep 2021 22:19:57 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC1028", "/AC1028", "Gene-Condition", "Tue, 04 May 2021 00:00:00 -0000", "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, 26 Aug 2024 00:00:00 -0000", "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, 21 May 2025 00:00:00 -0000", "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, 15 Sep 2021 22:14:33 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC103", "/AC103", "Gene-Condition", "Tue, 04 Jun 2019 00:00:00 -0000", "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, 09 Jan 2025 00:00:00 -0000", "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, 10 Feb 2020 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC1017", "/AC1017", "Gene-Condition", "Mon, 26 Oct 2020 00:00:00 -0000", "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, 30 Jan 2020 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC127", "/AC127", "Gene-Condition", "Wed, 04 Jun 2025 20:52:15 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC1027", "/AC1027", "Gene-Condition", "Mon, 21 Jun 2021 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC106", "/AC106", "Gene-Condition", "Wed, 04 Jun 2025 21:17:50 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC122", "/AC122", "Gene-Condition", "Wed, 26 Jun 2019 00:00:00 -0000", "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, 26 Jun 2019 00:00:00 -0000", "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, 08 Dec 2022 00:00:00 -0000", "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, 05 Feb 2024 00:00:00 -0000", "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, 05 Feb 2024 00:00:00 -0000", "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, 29 May 2019 00:00:00 -0000", "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, 29 May 2019 00:00:00 -0000", "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, 03 Aug 2020 00:00:00 -0000", "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, 18 Nov 2024 00:00:00 -0000", "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, 08 Mar 2025 00:00:00 -0000", "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, 21 Aug 2025 00:00:00 -0000", "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, 21 Aug 2025 00:00:00 -0000", "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, 21 Aug 2025 00:00:00 -0000", "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, 04 Mar 2026 00:00:00 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC1016", "/AC1016", "Gene-Condition", "Mon, 03 Aug 2020 00:00:00 -0000", "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, 03 Aug 2020 00:00:00 -0000", "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, 03 Aug 2020 00:00:00 -0000", "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, 03 Aug 2020 00:00:00 -0000", "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, 22 Dec 2022 00:00:00 -0000", "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, 22 Dec 2022 00:00:00 -0000", "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, 15 Sep 2021 22:13:45 -0000", "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", null, "N/A", null, "N/A", null, null, null, null, null ],
    [ "AC076", "/AC076", "Gene-Condition", "Tue, 12 Jan 2021 00:00:00 -0000", "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" ]
  ]
}