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

Disease category	Syndrome	Gene(s)
Cancer	Breast and ovarian cancer	BRCA1, BRCA2, PALB2^*
	Li-Fraumeni syndrome, Peutz-Jeghers syndrome, juvenile polyposis syndrome, and PTEN hamartoma tumor syndrome	BMPR1A^¶, PTEN, SMAD4^¶, STK11, TP53
	Familial adenomatous polyposis, Lynch syndrome, and MUTYH-associated polyposis	APC, MLH1, MSH2, MSH6, MUTYH, PMS2
	Retinoblastoma, tuberous sclerosis, Von Hippel-Lindau syndrome, and Wilms tumor	RB1, TSC1, TSC2, VHL, WT1
	Multiple endocrine neoplasia 1 or 2 and familial medullary thyroid cancer	MEN1, RET
	Hereditary paraganglioma-pheochromocytoma syndrome and neurofibromatosis type 2	MAX^, NF2, SDHAF2, SDHB, SDHC, SDHD, TMEM127^
Cardiovascular disease	Hypertrophic or dilated cardiomyopathy	ACTC1, BAG3^, DES^, FLNC, GLA, LMNA, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, RBM20^, TNNC1^, TNNI3, TNNT2, TPM1, TTN
	Catecholaminergic polymorphic VT, arrhythmogenic right ventricular cardiomyopathy, long QT syndromes, and Brugada syndrome	CALM1^, CALM2^, CALM3^, CASQ2^, DSC2, DSG2, DSP, KCNH2, KCNQ1, PKP2, RYR2, SCN5A, TMEM43, TRDN^*
	Familial hypercholesterolemia	APOB, LDLR, PCSK9
Connective tissue or vascular integrity	Ehlers-Danlos syndrome (vascular type)	COL3A1
	Hereditary hemorrhagic telangiectasia	ACVRL1^, ENG^
	Marfan syndrome, Loeys-Dietz syndrome, and familial thoracic aortic aneurysms and dissections	ACTA2, FBN1, MYH11^Δ, SMAD3, TGFBR1, TGFBR2
Malignant hyperthermia susceptibility		CACNA1S, RYR1
Metabolism	Wilson disease (copper metabolism)	ATP7B^¶
	Biotinidase deficiency	BTD^*
	Fabry disease	GLA
	Pompe disease	GAA^*
	Ornithine transcarbamylase deficiency (urea cycle)	OTC^¶
Others	Hereditary hemochromatosis	HFE^*
	Maturity-onset diabetes of the young	HNF1A^*
	Retinopathy	RPE65^*
	Hereditary amyloidosis	TTR^*

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; VT: ventricular tachycardia.

* Added in the 2023 revision (ACMG 3.0 to 3.2).

¶ Added in the 2016 revision (ACMG 2.0).

Δ MYLK was removed in the 2016 revision due to lack of an effective confirmatory test or intervention to improve outcomes.

Prepared with data from:

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.
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.
Miller DT, Lee K, Abul-Husn NS, et al. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2023; 25:100866.

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