Dilated Cardiomyopathy and conduction defects
Gene: EMD
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
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
EMD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory,Expert list
EMD was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory,Expert list