ACMG List

ACMG List of Conditions and Genes for Return of Secondary Findings in Clinical WGS (2.0)

Gene Condition Gene Condition
APC Adenomatous polyposis coli TGFBR1 Loeys-Dietz syndrome type 2A
MYH11 Aortic aneurysm, familial thoracic 4 Aortic aneurysm, familial thoracic 4 Loeys-Dietz syndrome type 2
ACTA2 Aortic aneurysm, familial thoracic 6 SMAD3 Loeys-Dietz syndrome type 3
TMEM43 Arrhythmogenic right ventricular cardiomyopathy, type 5 KCNQ1 Long QT syndrome 1
DSP Arrhythmogenic right ventricular cardiomyopathy, type 8 KCNH2 Long QT syndrome 2
PKP2 Arrhythmogenic right ventricular cardiomyopathy, type 9 SCN5A Long QT syndrome 3
DSG2 Arrhythmogenic right ventricular cardiomyopathy, type 10 MLH1 Lynch syndrome
DSC2 Arrhythmogenic right ventricular cardiomyopathy, type 11 MSH2 Lynch syndrome
BRCA1 Breast-ovarian cancer, familial 1 MSH6 Lynch syndrome
BRCA2 Breast-ovarian cancer, familial 2 PMS2 Lynch syndrome
SCN5A Brugada syndrome 1 RYR1 Malignant hyperthermia
RYR2 Catecholaminergic polymorphic ventricular tachycardia CACNA1S Malignant hyperthermia
LMNA Dilated cardiomyopathy 1A FBN1 Malignant hyperthermia
MYBPC3 Dilated cardiomyopathy 1A TGFBR1 Marfan’s syndrome
COL3A1 Ehlers-Danlos syndrome, type 4 MEN1 Multiple endocrine neoplasia, type 1
GLA Fabry’s disease RET Multiple endocrine neoplasia, type 2a
APOB Familial hypercholesterolemia RET Multiple endocrine neoplasia, type 2b
LDLR Familial hypercholesterolemia MUTYH MYH-associated polyposis
MYH7 Familial hypertrophic cardiomyopathy 1 NF2 Neurofibromatosis, type 2
TPM1 Familial hypertrophic cardiomyopathy 3 OTC Ornithine transcarbamylase deficiency
MYBPC3 Familial hypertrophic cardiomyopathy 4 SDHD Paragangliomas 1
PRKAG2 Familial hypertrophic cardiomyopathy 6 SDHF2 Paragangliomas 2
TNNI3 Familial hypertrophic cardiomyopathy 7 SDHC Paragangliomas 3
MYL3 Familial hypertrophic cardiomyopathy 8 SDHB Paragangliomas 4
MYL2 Familial hypertrophic cardiomyopathy 10 STK11 Peutz-Jeghers syndrome
ACTC1 Familial hypertrophic cardiomyopathy 11 MUTYH Pilomatrixoma
RET Familial medullary thyroid carcinoma PTEN PTEN hamartoma tumor syndrome
PCSK9 Hypercholesterolemia, autosomal dominant, 3 RB1 Retinoblastoma 0
BMPR1A Juvenile Polyposis TSC1 Tuberous sclerosis 1
SMAD4 Juvenile Polyposis TSC2 TSC2
TNNT2 Left ventricular noncompaction 6 VHL Von Hippel-Lindau syndrome
TP53 Li-Fraumeni syndrome 1 ATP7B Wilson’s Disease
TGFBR1 Loeys-Dietz syndrome type 1A WT1 Wilms’ tumor
TGFBR2 Loeys-Dietz syndrome type 1B