This Panel is marked as Internal
Sudden cardiac death - previous panel
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
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- London South GLH
- Expert Review Red
- London South GLH
- Expert Review Red
- Phenotypes
-
- Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
- OMIM
- 300384
- Clinvar variants
- Variants in EMD
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Progressive cardiac conduction disease
- Hereditary neuropathy or pain disorder
- Dilated Cardiomyopathy and conduction defects
- Hereditary neuropathy
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Congenital muscular dystrophy
History Filter Activity
9 Sep 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: EMD was added gene: EMD was added to Sudden cardiac death. Sources: Expert Review Red,London South GLH Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300