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

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