Your activity: 32 p.v.
< Back
your limit has been reached. plz Donate us to allow your ip full access, Email: sshnevis@outlook.com

American College of Medical Genetics and Genomics list of genes for which secondary findings should be disclosed

American College of Medical Genetics and Genomics list of genes for which secondary findings should be disclosed
Disease category Syndrome Gene(s)
Cancer Breast/ovarian cancer BRCA1, BRCA2
Li-Fraumeni syndrome, Peutz-Jeghers syndrome; Juvenile polyposis, PTEN hamartoma syndrome TP53, STK11, SMAD4*, BMPR1A*, PTEN
Lynch syndrome, familial adenomatous polyposis, MYH-associated polyposis MLH1, MSH2, MSH6, PMS2, APC, MUTYH
Von Hippel Lindau syndrome; retinoblastoma, tuberous sclerosis, Wilms tumor VHL, RB1, TSC1, TSC2, WT1
Multiple endocrine neoplasia 1 or 2; familial medullary thyroid cancer MEN1, RET
Hereditary paraganglionoma-pheochromocytoma syndrome, neurofibromatosis type 2 SDHD, SDHAF2, SDHC, SDHB, NF2
Cardiovascular disease Hypertrophic or dilated cardiomyopathy MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA
Catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular cardiomyopathy, Romano-Ward Long QT syndromes, Brugada syndrome RYR2, PKP2, DSP, DSC2, TMEM43, DSG2, KCNQ1, KCNH2, SCN5A
Familial hypercholesterolemia LDLR, APOB, PCSK9
Connective tissue or vascular integrity Ehlers-Danlos syndrome COL3A1
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms and dissections FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYH11
Malignant hyperthermia sensitivity   RYR1, CACNA1S
Metabolism Wilson disease (copper metabolism) ATP7B*
Ornithine transcarbamylase deficiency (urea cycle) OTC*
This list includes genes identified by the American College of Medical Genetics and Genomics (ACMG) as clinically actionable when known pathogenic (and, in some cases, expected pathogenic) variants are identified by whole genome or exome sequencing. Refer to UpToDate topics on genetic counseling and secondary findings from genomic testing for further details. An updated list is maintained on the ClinVar website (https://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/).
ACMG: American College of Medical Genetics and Genomics.
* Added in the 2016 revision (ACMG 2.0).
MYLK was removed in the 2016 revision due to lack of an effective confirmatory test or intervention to improve outcomes.
Prepared with data from:
  1. Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013; 15:565.
  2. Kalia SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics. Genet Med 2017; 19:249.
Graphic 97842 Version 7.0