List of Secondary Findings Genes

Information about optional secondary findings

ACMG SF v3.2

The American College of Medical Genetics and Genomics (ACMG) recommends reviewing and reporting pathogenic and expected pathogenic variants in a list of 81 genes.1 They have recommended this list because the genes are related to conditions that are “actionable”, meaning that there are steps that can be taken to mitigate the onset or severity of the clinical outcome.

Patients who receive comprehensive testing have the choice to opt-in to receive secondary pathogenic and likely pathogenic findings in these genes. Variants of uncertain significance (VUS) will not be reported.

The following tests have the option to opt-in to ACMG Secondary Findings:

Cancer related

APCFamilial adenomatous polyposis
RETFamilial medullary thyroid cancer
BRCA1, BRCA2, PALB2Hereditary breast and/or ovarian cancer
SDHD, SDHAF2, SDHC, SDHB, MAX, TMEM127Hereditary paraganglioma–pheochromocytoma syndrome
BMPR1A, SMAD4Juvenile polyposis syndrome
TP53Li–Fraumeni syndrome
MLH1, MSH2, MSH6, PMS2Lynch syndrome
MEN1Multiple endocrine neoplasia type 1
MUTYH*MUTYH-associated polyposis
NF2Neurofibromatosis type 2
STK11Peutz–Jeghers syndrome
PTENPTEN hamartoma tumor syndrome
TSC1, TSC2Tuberous sclerosis complex
VHLvon Hippel–Lindau syndrome
WT1WT1-related Wilms tumor

Cardiac and/or blood vessel related

 FBN1, TGFBR1, TGFBR2,SMAD3, ACTA2 , MYH11 Aortopathies
PKP2, DSP, DSC2, TMEM43, DSG2Arrhythmogenic right ventricular cardiomyopathy
RYR2, CASQ2, TRDNCatecholaminergic polymorphic ventricular tachycardia
BAG3, DES, RBM20, TNNC1, TNNT2, LMNA, FLNC, TTNDilated cardiomyopathy
CALM1, CALM2, CALM3Long QT syndrome types 14 and 16
COL3A1Ehlers–Danlos syndrome, vascular type
LDLR, APOB, PCSK9Familial hypercholesterolemia
MYH7, MYBPC3, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, MYL2Hypertrophic cardiomyopathyh
KCNQ1, KCNH2Long QT syndrome types 1 and 2
SCN5ALong QT syndrome 3; Brugada syndrome

Genes related to inborn errors of metabolism phenotypes

BTD*Biotinidase deficiency
GLAFabry disease
OTCOrnithine transcarbamylase deficiency
GAA*Pompe disease


HFE**Hereditary hemochromatosis
ACVRL1, ENGHereditary hemorrhagic telangiectasia
RYR1, CACNA1SMalignant hyperthermia
HNF1AMaturity-onset diabetes of the young
RPE65*RPE65-related retinopathy
ATP7B*Wilson disease
TTRHereditary transthyretin amyloidosis

*Will be reported only if two likely pathogenic and/or pathogenic variants are identified (homozygous or compound heterozygous state). 
**HFE p.Cys282Tyr homozygous only

ACMG v3.2

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