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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

From SNPedia

The American College of Medical Genetics and Genomics has published recommendations about reporting incidental findings in the exons of certain genes. In brief, the ACMG recommends that if DNA mutations are found in certain genes they should be reported to individuals because of their potential high medical importance.[PMID 23788249OA-icon.png],doi:10.1038/gim.2016.190

Known as the 'ACMG 56' or more recently the 'ACMG 59', the following table of such genes has been adapted from a similiar table posted online by the NCBI, with updates based on 2015 and 2016 ACMG publications.

Disease MIM # MedGen Usual MOI Gene ClinVar Pathogenic
Arrhythmogenic right ventricular cardiomyopathy, type 5 604400 MedGen Autosomal dominant TMEM43 ClinVar
Arrhythmogenic right ventricular cardiomyopathy, type 8 607450 MedGen Autosomal dominant DSP ClinVar
Arrhythmogenic right ventricular cardiomyopathy, type 9 609040 MedGen Autosomal dominant PKP2 ClinVar
Arrhythmogenic right ventricular cardiomyopathy, type 10 610193 MedGen Autosomal dominant DSG2 ClinVar
Arrhythmogenic right ventricular cardiomyopathy, type 11 610476 MedGen Autosomal dominant
Autosomal recessive
DSC2 ClinVar
Breast-ovarian cancer, familial 1 604370 MedGen Autosomal dominant
Multifactorial
BRCA1 ClinVar
Breast-ovarian cancer, familial 2 612555 MedGen Autosomal dominant
Multifactorial
BRCA2 ClinVar
Brugada syndrome 1 601144 MedGen Autosomal dominant SCN5A ClinVar
Catecholaminergic polymorphic ventricular tachycardia 604772 MedGen Autosomal dominant RYR2 ClinVar
Dilated cardiomyopathy 1A 115200 MedGen Autosomal dominant
possible recessive form also
LMNA ClinVar
Dilated cardiomyopathy 1A 115200 MedGen Autosomal dominant
possible recessive form also
MYBPC3 ClinVar
Ehlers-Danlos syndrome type 4 130050 MedGen Autosomal dominant COL3A1 ClinVar
Fabry's disease 301500 MedGen X-linked GLA ClinVar
Familial adenomatous polyposis-1 175100 MedGen Autosomal dominant APC ClinVar
Familial adenomatous polyposis-2 608456 MedGen Autosomal recessive MUTYH

ClinVar

Familial hypercholesterolemia 143890 MedGen Autosomal dominant APOB
LDLR
ClinVar
ClinVar
Familial hypertrophic cardiomyopathy 1 192600 MedGen Autosomal dominant MYH7 ClinVar
Familial hypertrophic cardiomyopathy 3 115196 MedGen Autosomal dominant TPM1 ClinVar
Familial hypertrophic cardiomyopathy 4 115197 MedGen Autosomal dominant MYBPC3 ClinVar
Familial hypertrophic cardiomyopathy 6 600858 MedGen Autosomal dominant PRKAG2 ClinVar
Familial hypertrophic cardiomyopathy 7 613690 MedGen Autosomal dominant TNNI3 ClinVar
Familial hypertrophic cardiomyopathy 8 608751 MedGen Autosomal dominant
Autosomal recessive
MYL3 ClinVar
Familial hypertrophic cardiomyopathy 10 608758 MedGen Autosomal dominant MYL2 ClinVar
Familial hypertrophic cardiomyopathy 11 612098 MedGen Autosomal dominant ACTC1 ClinVar
Familial medullary thyroid carcinoma 155240 MedGen Autosomal dominant RET ClinVar
Hypercholesterolemia, autosomal dominant, 3 603776 MedGen Autosomal dominant PCSK9 ClinVar
Juvenile polyposis 174900 MedGen Autosomal dominant BMPR1A ClinVar
Juvenile polyposis 174900 MedGen Autosomal dominant SMAD4 ClinVar
Left ventricular noncompaction 6 601494 MedGen Autosomal dominant TNNT2 ClinVar
Li-Fraumeni syndrome 1 151623 MedGen Autosomal dominant TP53 ClinVar
Loeys-Dietz syndrome type 1A 609192 MedGen Autosomal dominant TGFBR1 ClinVar
Loeys-Dietz syndrome type 1B 610168 MedGen Autosomal dominant TGFBR2 ClinVar
Loeys-Dietz syndrome type 3 613795 MedGen Autosomal dominant SMAD3 ClinVar
Long QT syndrome 1 192500 MedGen Autosomal dominant KCNQ1 ClinVar
Long QT syndrome 2 613688 MedGen Autosomal dominant KCNH1 ClinVar
Long QT syndrome 3 603830 MedGen Autosomal dominant SCN5A ClinVar
Lynch syndrome 120435 MedGen
MedGen
MedGen
MedGen
Autosomal dominant MLH1
MSH2
MSH6
PMS2
ClinVar
ClinVar
ClinVar
ClinVar
Malignant hyperthermia 145600 MedGen
MedGen
Autosomal dominant RYR1
CACNA1S
ClinVar
ClinVar
Marfan's syndrome 131100 MedGen Autosomal dominant FBN1

ClinVar

Multiple endocrine neoplasia, type 1 154700 MedGen Autosomal dominant MEN1

ClinVar

Multiple endocrine neoplasia, type 2a/b 171400
162300
MedGen Autosomal dominant RET

ClinVar

Neurofibromatosis, type 2 101000
162300
MedGen Autosomal dominant NF2

ClinVar

Ornithine transcarbamylase deficiency 311250 MedGen X-linked OTC ClinVar
Paragangliomas-1 168000 MedGen Autosomal dominant SDHD

ClinVar

Paragangliomas-2 601650 MedGen Autosomal dominant SDHAF2

ClinVar

Paragangliomas-3 605373 MedGen Autosomal dominant SDHC

ClinVar

Paragangliomas-4 115310 MedGen Autosomal dominant SDHB

ClinVar

Peutz-Jeghers syndrome 175200 MedGen Autosomal dominant STK11 ClinVar
PTEN hamartoma tumor syndrome 153480 MedGen Autosomal dominant PTEN ClinVar
Retinoblastoma 180200 MedGen Autosomal dominant RB1 ClinVar
Thoracic aortic aneurysm 4 132900 MedGen Autosomal dominant MYH11 ClinVar
Thoracic aortic aneurysm 6 611788 MedGen Autosomal dominant ACTA2 ClinVar
Tuberous sclerosis-1 191100 MedGen Autosomal dominant TSC1 ClinVar
Tuberous sclerosis-2 613254 MedGen Autosomal dominant TSC2 ClinVar
Von Hippel-Lindau syndrome 193300 MedGen Autosomal dominant VHL ClinVar
Wilms tumor 194070 MedGen Autosomal dominant WT1 ClinVar
Wilson disease 277900 MedGen Autosomal recessive ATP7B ClinVar