This Panel is marked as Retired
Dilated Cardiomyopathy (DCM)
Gene: EMD
EMD (emerin)
EnsemblGeneIds (GRCh38): ENSG00000102119
EnsemblGeneIds (GRCh37): ENSG00000102119
OMIM: 300384, Gene2Phenotype
EMD is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000102119
EnsemblGeneIds (GRCh37): ENSG00000102119
OMIM: 300384, Gene2Phenotype
EMD is in 10 panels
1 review
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants reported in Emery-Dreifuss Muscular Dystrophy. Predominantly skeletal phenotype. DCM without any skeletal involvement is very rarely described.Created: 6 Jan 2016, 5:12 p.m.
Details
- Sources
-
- Expert list
- Emory Genetics Laboratory
- OMIM
- 300384
- Clinvar variants
- Variants in EMD
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy
- 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
- Hereditary neuropathy or pain disorder
- Congenital muscular dystrophy
History Filter Activity
13 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)EMD was added to Dilated Cardiomyopathy (DCM)panel. Sources: Emory Genetics Laboratory,Expert list
13 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)EMD was added to Dilated Cardiomyopathy (DCM)panel. Sources: Emory Genetics Laboratory,Expert list