Familial non syndromic congenital heart disease

Gene: MYH6

Green List (high evidence)

MYH6 (myosin heavy chain 6)
EnsemblGeneIds (GRCh38): ENSG00000197616
EnsemblGeneIds (GRCh37): ENSG00000197616
OMIM: 160710, Gene2Phenotype
MYH6 is in 13 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed internally with Arianna Tucci (Genomics England Clinical Team), and enough evidence for biallelic variants causing Shone complex. Promoted from Amber to Green due to this feedback.
Created: 18 Dec 2017, 3:17 p.m.
PMID: 28991257 - a new publication reports seven rare damaging recessive genotypes in this gene in 7 patients with cardiac heart disease from the NHLBI Pediatric Cardiac Genomics Consortium cohort. These include predicted loss-of-function and missense variants. They compared the observed number of rare damaging recessive genotypes to the expected frequency, estimated from the de novo probability and adjusting for consanguinity. They state that recessive genotypes in MYH6 accounted for 11% of the 37 sequenced patients with Shone complex. "Patients with Shone complex and biallelic MYH6 mutations may be at particular risk for ventricular dysfunction, potentially allowing early identification and intervention". It is unclear whether the variants segregated in the family with disease, or if these were the only candidate variants identified in these patients.
Created: 18 Oct 2017, 10:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Shone complex

Publications

Helen Brittain (Genomics England Curator)

I don't know

Large family reported to date, with ASD.
Created: 4 Jul 2017, 7:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Atrial septal defect; Atrial septal defect 3, 614089

Publications

Alice Gardham (Genomics England)

I don't know

Known to cause cardiomyopathy. Also reported in ASD and other congenital heart disease patients but with decreased penetrance
Created: 28 Nov 2016, 4:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Atrial septal defect 3 614089

Publications

Details

History Filter Activity

11 Jan 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MYH6 were set to 15735645, 20656787

18 Dec 2017, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MYH6 were set to Atrial septal defect 3 614089; Shone complex

18 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Dec 2017, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to BIALLELIC, autosomal or pseudoautosomal

26 Jan 2017, Gel status: 2

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

28 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

MYH6 was added to Familial non syndromic congenital heart diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen

28 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

MYH6 was created by agardham