This Panel is marked as Internal
Neuromuscular arthrogryposis
Gene: MYH7
MYH7 (myosin heavy chain 7)
EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test groupCreated: 16 May 2019, 9:33 p.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Laing Distal Myopathy, 160500
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- London South GLH
- Phenotypes
-
- Laing Distal Myopathy, 160500
- OMIM
- 160760
- Clinvar variants
- Variants in MYH7
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Paediatric disorders - additional genes
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy or pain disorder
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- Hereditary neuropathy
- Fetal hydrops
- Distal myopathies
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
16 May 2019, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MYH7.
16 May 2019, Gel status: 3
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to MYH7. Rating Changed from Red List (low evidence) to Green List (high evidence)
16 May 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: MYH7 was added gene: MYH7 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYH7 were set to Laing Distal Myopathy, 160500