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 23788249],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 |
KCNH2 |
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
|