Hereditary neuropathy
Gene: MYH7EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 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)
myopathy geneCreated: 9 Dec 2015, 4:48 p.m.
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
- 160760
- Clinvar variants
- Variants in MYH7
- Penetrance
- Complete
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Paediatric disorders - additional genes
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Distal myopathies
- Fetal hydrops
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cardiomyopathy for gene: MYH7
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MYH7.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to MYH7.
Added New Source
Ellen McDonagh (Genomics England Curator)MYH7 was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory