Paediatric or syndromic cardiomyopathy
Gene: EMDEnsemblGeneIds (GRCh38): ENSG00000102119
EnsemblGeneIds (GRCh37): ENSG00000102119
OMIM: 300384, Gene2Phenotype
EMD is in 10 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 9 Dec 2019, 3:01 p.m.
Panel Version: 0.57
Rebecca Whittington (South West GLH)
Emery-Dreifuss muscular dystrophy 1, OMIM#310300Created: 25 Mar 2019, 4:30 p.m.
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Variants in this GENE are reported as part of current diagnostic practice
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
- NHS GMS
- South West GLH
- Phenotypes
-
- Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
- OMIM
- 300384
- Clinvar variants
- Variants in EMD
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: emd has been classified as Green List (High Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to EMD.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: EMD was added gene: EMD was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300