List of Secondary Findings Genes
Information about optional secondary findings
ACMG SF v3.0
The American College of Medical Genetics and Genomics (ACMG) recommends reviewing and reporting pathogenic and expected pathogenic variants in a list of 73 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 for whom our Genomic Unity® Whole Genome Analysis, Genomic Unity® Exome Plus Analysis or Genomic Unity® Exome Analysis test is ordered have the choice to opt-in to receive pathogenic and expected pathogenic findings in these genes. Variants of uncertain significant (VUS) will not be reported.
|APC||Familial adenomatous polyposis|
|RET||Familial medullary thyroid cancer|
|BRCA1, BRCA2, PALB2||Hereditary breast and/or ovarian cancer|
|SDHD, SDHAF2, SDHC, SDHB, MAX, TMEM127||Hereditary paraganglioma–pheochromocytoma syndrome|
|BMPR1A, SMAD4||Juvenile polyposis syndrome|
|MLH1, MSH2, MSH6, PMS2||Lynch syndrome|
|MEN1||Multiple endocrine neoplasia type 1|
|NF2||Neuroﬁbromatosis type 2|
|PTEN||PTEN hamartoma tumor syndrome|
|TSC1, TSC2||Tuberous sclerosis complex|
|VHL||von Hippel–Lindau syndrome|
|WT1||WT1-related Wilms tumor|
Cardiac and/or blood vessel related
|FBN1, TGFBR1, TGFBR2,SMAD3, ACTA2 , MYH11||Aortopathies|
|PKP2, DSP, DSC2, TMEM43, DSG2||Arrhythmogenic right ventricular cardiomyopathy|
|RYR2, CASQ2, TRDN||Catecholaminergic polymorphic ventricular tachycardia|
|TNNT2, LMNA, FLNC, TTN||Dilated cardiomyopathy|
|COL3A1||Ehlers–Danlos syndrome, vascular type|
|LDLR, APOB, PCSK9||Familial hypercholesterolemia|
|MYH7, MYBPC3, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, MYL2||Hypertrophic cardiomyopathyh|
|KCNQ1, KCNH2||Long QT syndrome types 1 and 2|
|SCN5A||Long QT syndrome 3; Brugada syndrome|
Genes related to inborn errors of metabolism phenotypes
|OTC||Ornithine transcarbamylase deﬁciency|
|ACVRL1, ENG||Hereditary hemorrhagic telangiectasia|
|RYR1, CACNA1S||Malignant hyperthermia|
|HNF1A||Maturity-onset diabetes of the young|
*Will be reported only if two likely pathogenic and/or pathogenic variants are identified (homozygous or compound heterozygous state).
**HFE p.Cys282Tyr homozygous only
Genes other than the ACMG SF v3.0
There are additional genes that are not part of the ACMG’s recommended set, but are similar in that they have some associated actionability that could impact medical management and decision making.
Patients for whom our Genomic Unity® Whole Genome Analysis, Genomic Unity® Exome Plus Analysis or Genomic Unity® Exome Analysis test is ordered also have the choice to opt-in to receive pathogenic and expected pathogenic findings in these genes. Variants of uncertain significant (VUS) will not be reported. For more information, read more in our ACMG blog post.
For more information about unavoidable versus optional secondary findings in general, read our related post “Unavoidable versus optional incidental findings: What you need to know“.
Variantyx secondary findings
|G6PD||Glucose-6-phosphate dehydrogenase deficiency|
|VWF||Von Willebrand disease|
|SERPINA1||Alpha-1 antitrypsin deficiency|
|CDH1||Hereditary diffuse gastric cancer|
|BARD1||Breast cancer susceptibility|
|BRIP1||Breast-ovarian cancer susceptibility|
|RAD51C||Breast-ovarian cancer susceptibility|
|RAD51D||Breast-ovarian cancer susceptibility|
|NF1||Neurofibromatosis type 1 (NF1)|
|CHEK2||Li-Fraumeni syndrome type 2, susceptibility to breast cancer, colorectal cancer, prostate cancer|