Cardiomyopathies - including childhood onsetGene: EMD
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
Emery-Dreifuss muscular dystrophy 1, OMIM#310300
Created: 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
Gene: emd has been classified as Green List (High Evidence).
Source NHS GMS was added to EMD.
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