Dilated Cardiomyopathy and conduction defects
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
2 reviews
Rebecca Whittington (South West GLH)
Emery-Dreifuss muscular dystrophy 1, OMIM#310300Created: 25 Mar 2019, 4:30 p.m.
Missense variants in this gene have been detected in patients with DCM, cardiac conduction defects (including heart block) and later onset muscular dystrophy (Ellis et al, 1999) or DCM alone. Mook et al, 2013 - 1 variant VUS Mook ORF, et al. J Med Genet 2013;50:614626. doi:10.1136/jmedgenet-2012-101231. Cuenca et al, 2016 describes a founder EMD mutation in 13 unrelated families with DCM in Teneriefe, the variant has no pop freq on GnomAD. Usually assoc with Emery muscular dystrophy. HGMD: all DM entries assoc with EMD.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- South West GLH
- Expert list
- Emory Genetics Laboratory
- OMIM
- 300384
- Clinvar variants
- Variants in EMD
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Progressive cardiac conduction disease
- Arthrogryposis
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- Dilated and arrhythmogenic cardiomyopathy
- Congenital muscular dystrophy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to EMD. Mode of inheritance for gene EMD was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
14 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)EMD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory,Expert list
14 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)EMD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory,Expert list