Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: EMDEnsemblGeneIds (GRCh38): ENSG00000102119
EnsemblGeneIds (GRCh37): ENSG00000102119
OMIM: 300384, Gene2Phenotype
EMD is in 10 panels
1 review
Ellen Thomas (Genomics England Curator)
Comment on list classification: EDMD is an important differentialCreated: 29 May 2016, 7:29 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Emery-Dreifuss muscular dystrophy 1, X-linked 310300
- OMIM
- 300384
- Clinvar variants
- Variants in EMD
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Dilated and arrhythmogenic cardiomyopathy
- Progressive cardiac conduction disease
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Congenital muscular dystrophy
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for EMD was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen Thomas (Genomics England Curator)EMD was added to Limb girdle muscular dystrophypanel. Sources: Expert Review
Created
Ellen Thomas (Genomics England Curator)EMD was created by EllenThomas