myGenome Gene-Disease Reference List for Providers The Clinical Section of the myGenome test is designed to examine genes associated with a set of actionable genetic disorders. The list below shows all interpreted genes and their associated conditions/diseases. This test includes interpretation of 59 genes deemed medically actionable by the American College of Medical Genetics and Genomics*. If you have any questions, please contact us at 1 (888) 507-6619 or email [email protected]. Mode of Additional Disease Associations Clinically Actionable Disease Group Gene Clinically Actionable Disease by Gene (Sources: OMIM, GeneReviews, and/or Inheritance Genetics Home Reference) Cancer Susceptibility Hereditary Breast Hereditary Breast and Ovarian Cancer syndrome (female & Reproductive BRCA1 AD and male breast cancer, ovarian/fallopian tube, prostate, N/A Cancers (4 genes) pancreatic) Hereditary Breast and Ovarian Cancer syndrome (female Fanconi anemia type D1 (AR); • Hereditary Breast and Ovarian Cancer BRCA2 AD, AR and male breast cancer, ovarian/fallopian tube, prostate, Glioblastoma; medulloblastoma; Wilms tumor syndrome pancreatic, melanoma) (AD) Lhermitte-Duclos syndrome; macrocephaly/autism • PTEN Hamartoma Tumor syndrome PTEN Hamartoma tumor syndrome; Cowden syndrome; PTEN AD syndrome; VATER association with macrocephaly and • Li-Fraumeni syndrome Banayan-Riley-Ruvalcaba syndrome ventriculomegaly; Glioma susceptibility; meningioma Bone marrow failure syndrome; Adrenocortical carcinoma (pediatric); Basal cell carcinoma; Choroid plexus TP53 AD Li-Fraumeni syndrome papilloma; Colorectal cancer; glioma susceptibility; osteosarcoma Familial Adenomatous Polyposis (FAP); Attenuated FAP; Hereditary Gastrointestinal Polyposis APC AD N/A Gardner syndrome; Turcot syndrome and Cancer (9 genes) BMPR1A AD Juvenile Polyposis syndrome Hereditary Mixed Polyposis syndrome Hereditary Non-Polyposis Colorectal syndrome (HNPCC) • Lynch syndrome Constitutional Mismatch Repair Deficiency (CMMR) MLH1 AD, AR (AD); also known as Lynch syndrome and/or Muir-Torre syndrome (AR) • Familial Adenomatous Polyposis syndrome (AD) • MUTYH-Associated Polyposis Hereditary Non-Polyposis Colorectal syndrome (HNPCC) Constitutional Mismatch Repair Deficiency (CMMR) MSH2 AD, AR (AD); also known as Lynch syndrome and/or Muir-Torre • Juvenile Polyposis syndrome (AR) • Peutz-Jeghers syndrome syndrome (AD) Hereditary Non-Polyposis Colorectal syndrome (HNPCC) Constitutional Mismatch Repair Deficiency (CMMR) MSH6 AD, AR (AD); also known as Lynch syndrome and/or Muir-Torre syndrome (AR) syndrome (AD) MUTYH-Associated Polyposis (AR; aka also known as MYH-Associated Polyposis); Adenomas, multiple MUTYH AR, AD Susceptibility to colorectal cancer (AD) colorectal, FAP type 2; Autosomal Recessive Colorectal adenomatous polyposis with pilomatricomas Hereditary Non-Polyposis Colorectal syndrome (HNPCC) Constitutional Mismatch Repair Deficiency (CMMR) PMS2 AD, AR (AD); also known as Lynch syndrome and/or Muir-Torre syndrome (AR) syndrome (AD) SMAD4 AD Juvenile Polyposis syndrome Hereditary Hemorrhagic Telangiectasia; Myrhe syndrome STK11 AD Peutz-Jeghers syndrome N/A Neurocutaneous and Ocular (4 genes) NF2 AD Neurofibromatosis type 2 N/A RB1 AD Retinoblastoma N/A • Neurofibromatosis Types 1 & 2 TSC1 AD, Unknown Tuberous Sclerosis Complex type 1 (AD) Lymphangioleiomyomatosis (Unknown) • Tuberous Sclerosis Complex Types 1 & 2 • Retinoblastoma TSC2 AD Tuberous Sclerosis Complex type 2 N/A Neuro/endocrine and Renal (8 genes) MEN1 AD, Unknown Multiple Endocrine Neoplasia type 1 (AD) Lung carcinoid (Unknown) Multiple Endocrine Neoplasia Type IIA and IIB; Pheochromocytoma; Central hypoventilation syndrome, • Familial Medullary Thyroid cancer RET AD Familial Medullary Thyroid Cancer (FMTC) • Hereditary Paraganglioma- congenital; Susceptibility to and protection against Hirschsprung disease Pheochromocytoma syndrome SDHAF2 AD Hereditary Paraganglioma-Pheochromocytoma Syndrome N/A • Multiple Endocrine Neoplasia SDHB AD Hereditary Paraganglioma-Pheochromocytoma Syndrome Cowden syndrome; Gastrointestinal stromal tumor (GIST) Types 1 & 2 SDHC AD Hereditary Paraganglioma-Pheochromocytoma Syndrome Cowden syndrome; Gastrointestinal stromal tumor (GIST) Hereditary Paraganglioma-Pheochromocytoma Syndrome Gastrointestinal stromal tumor (GIST; AD); Cowden • von Hippel-Lindau syndrome SDHD AD, AR • WT1-related Wilm's Tumor (AD) syndrome (AD); mitochondrial complex II deficiency (AR) VHL AD, AR von Hippel-Lindau Syndrome (AD) Familial erythrocytosis (AR) WAGR syndrome (Wilms tumor, aniridia, genital anomalies, retardation; AD); Denys-Drash syndrome WT1 AD, Unknown, AR WT1-related Wilm's tumor (AD) (AD); Frasier syndrome (AD); Congenital nephrotic syndrome (AD); Meacham syndrome (AR, Unknown) Cardiac Disease Cardiomyopathy (16 genes) Dilated cardiomyopathy; ACTC1 AD Hypertrophic cardiomyopathy; Atrial septal defect; restrictive cardiomyopathy • Hypertrophic Cardiomyopathy Left ventricular noncompaction Arrhythmogenic right ventricular dysplasia 11 with mild DSC2 AD, AR Arrythmogenic right ventricular cardiomyopathy (AD, AR) • Dilated Cardiomyopathy palmoplantar keratoderma and woolly hair (AR, AD) • Arrhythmogenic Right Ventricular Arrhythmogenic right ventricular dysplasia 10 (AD) DSG2 AD, AR, Unknown Dilated cardiomyopathy (Unknown) Cardiomyopathy Arrthythmogenic right ventriuclar cardiomyopathy (AR) • Left Ventricular Non-Compaction Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (AD); Dilated cardiomyopathy with woolly hair and keratoderma Arrythmogenic right ventricular cardiomyopathy (AD); DSP AD, AR, Unknown (AR); Lethal acantholytic epidermolysis bullosa (AR); Skin Dilated cardiomyopathy (Unknown) fragility-woolly hair syndrome (AR); Keratosis palmoplantaris striata II (Unknown) GLA XL Hypertrophic cardiomyopathy (XL) Fabry disease (XL) Congenital muscular dystrophy (AD); Limb-girdle muscular dystrophy, type 1B (AD); Heart-hand syndrome, Slovenian type (AD); Lipodystrophy, familial partial, type 2 Dilated cardiomyopathy (AD) (AD); Malouf syndrome (AD); Emery-Dreifuss muscular LMNA AD, AR dystrophy (AD, AR); Hutchinson-Gilford progeria (AD, AR); Charcot-Marie-Tooth disease, type 2B1 (AR); Mandibuloacral dysplasia (AR); Restrictive dermopathy, lethal (AR) Dilated cardiomyopathy; MYBPC3 AD Hypertrophic cardiomyopathy; N/A Left ventricular noncompaction Dilated cardiomyopathy (AD); Laing distal myopathy (AD); Scapuloperoneal syndrome, MYH7 AD, AR Hypertrophic cardiomyopathy (AD); myopathic type (AD); Myosin storage myopathy (AD,AR) Left ventricular noncompaction (AD) MYL2 AD Hypertrophic cardiomyopathy N/A MYL3 AD Hypertrophic cardiomyopathy N/A PKP2 AD Arrythmogenic right ventricular cardiomyopathy N/A Glycogen storage disease of heart, lethal congenital; PRKAG2 AD Hypertrophic cardiomyopathy Wolff-Parkinson-White syndrome TMEM43 AD Arrhythmogenic right ventricular cardiomyopathy Emery-Dreifuss muscular dystrophy Dilated cardiomyopathy (AR, Unknown); TNNI3 AD, AR, Unknown Familial restrictive cardiomyopathy (AD) Hypertrophic cardiomyopathy (AD) Dilated cardiomyopathy; TNNT2 AD Hypertrophic cardiomyopathy; Familial restrictive cardiomyopathy (AD) Left ventricular noncompaction Dilated cardiomyopathy; TPM1 AD Hypertrophic cardiomyopathy; N/A Left ventricular noncompaction myGenome by Veritas - Provider Gene-Disease v1 List Apr.24.2020 Page 1 of 3 Mode of Additional Disease Associations Clinically Actionable Disease Group* Gene Clinically Actionable Disease by Gene (Sources: OMIM, GeneReviews, and/or Inheritance Genetics Home Reference) Channelopathy and Arrhythmia Long QT syndrome (AD); Atrial fibrillation, familial (AD); KCNQ1 AD, AR N/A (4 genes) Short QT syndrome (AD); Jervell and Lange-Nielsen syndrome (AR) • Romano-Ward Long QT syndromes Long QT syndrome (AD); Heart block (progressive and nonprogressive), type IA Types 1, 2, and 3 Brugada syndrome (AD); (AD); Sick sinus syndrome (AR); Susceptibility to Sudden SCN5A AD, AR, Unknown • Brugada syndrome Atrial fibrillation, familial (AD); Infant Death Syndrome (AR): Ventricular fibrillation, • Catecholaminergic Polymorphic Dilated cardiomyopathy (AD) familial (Unknown) Long QT syndrome (AD); KCNH2 AD, Unknown N/A Ventricular Tachycardia Short QT syndrome (Unknown) Catecholaminergic polymorphic ventricular tachycardia; RYR2 AD N/A Arrythmogenic right ventricular cardiomyopathy Familial Hypercholesterolemia APOB AD, AR Familial hypercholesterolemia (AD) Hypobetalipoproteinemia (AR) (3 genes) LDLR AD Familial hypercholesterolemia N/A PCSK9 AD Familial hypercholesterolemia N/A Connective Tissue Moyamoya disease; Multisystemic smooth muscle Marfan syndrome, Loeys-Dietz ACTA2 AD Familial thoracic aortic aneurysm dysfunction syndrome syndromes, and Familial Thoracic Acromicric dysplasia (AD); familial ectopia lentis (AD); Aortic Aneurysms and Dissections geleophysic dysplasia (AD); Marfan lipodystrophy FBN1 AD, Unknown Marfan syndrome (AD) (6 genes) syndrome (AD); stiff skin syndrome (AD); Weill- Marchesani syndrome (AD); MASS syndrome (Unknown) MYH11 AD Familial thoracic aortic aneurysm N/A SMAD3 AD Loeys-Dietz syndrome N/A Susceptibility to multiple self-healing squamous TGFBR1 AD Loeys-Dietz syndrome epithelioma TGFBR2 AD Loeys-Dietz syndrome Colorectal cancer, hereditary nonpolyposis Ehlers-Danlos syndrome, vascular type COL3A1 AD Ehlers-Danlos syndrome, vascular type N/A Other Actionable Diseases Malignant Hyperthermia Susceptibility CACNA1S AD Malignant hyperthermia susceptibility Hypokalemic periodic paralysis