Familial non syndromic congenital heart disease
Gene: MYH6EnsemblGeneIds (GRCh38): ENSG00000197616
EnsemblGeneIds (GRCh37): ENSG00000197616
OMIM: 160710, Gene2Phenotype
MYH6 is in 11 panels
4 reviews
Ivone Leong (Genomics England Curator)
Comment on mode of inheritance: MOI change dfrom "BIALLELIC, autosomal or pseudoautosomal" to "Both Monoallelic and Biallelic" as Monoallelic variants also cause disease.Created: 18 Mar 2022, 12:44 p.m. | Last Modified: 18 Mar 2022, 12:44 p.m.
Panel Version: 1.75
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)
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)
Known to cause cardiomyopathy. Also reported in ASD and other congenital heart disease patients but with decreased penetranceCreated: 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
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Atrial septal defect 3 614089
- Shone complex
- OMIM
- 160710
- Clinvar variants
- Variants in MYH6
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Laterality disorders and isomerism
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- Familial non syndromic congenital heart disease
- DDG2P
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Fetal anomalies
- Hereditary neuropathy or pain disorder
History Filter Activity
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: MYH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MYH6 were set to 15735645, 20656787
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MYH6 were set to Atrial septal defect 3 614089; Shone complex
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January
Created
Alice Gardham (Genomics England)MYH6 was created by agardham
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