Hereditary neuropathy
Gene: MYH6EnsemblGeneIds (GRCh38): ENSG00000197616
EnsemblGeneIds (GRCh37): ENSG00000197616
OMIM: 160710, Gene2Phenotype
MYH6 is in 11 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Cardiomyopathy
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy
- OMIM
- 160710
- Clinvar variants
- Variants in MYH6
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Laterality disorders and isomerism
- Intellectual disability
- Familial non syndromic congenital heart disease
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cardiomyopathy for gene: MYH6
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MYH6.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to MYH6.
Added New Source
Ellen McDonagh (Genomics England Curator)MYH6 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory