Progressive cardiac conduction disease
Gene: EMD
Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.46
Comment on phenotypes: This gene is also associated with Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300Created: 2 Mar 2021, 3:31 p.m. | Last Modified: 2 Mar 2021, 3:31 p.m.
Panel Version: 1.9
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
No association with conduction disease on OMIM but two missense variants have been associated with cardiomyopathy with conduction disease in HGMD: c.65C>T p.(Pro22Leu), c.608G>A p.(Arg203His).Created: 25 Sep 2019, 2:42 p.m. | Last Modified: 25 Sep 2019, 2:42 p.m.
Panel Version: 0.28
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Publications
Emery-Dreifuss muscular dystrophy 1, X-linked (OMIM 310300)Created: 25 Mar 2019, 4:30 p.m.
As with LMNA - reports of individuals with a EMD variant who had a conduction defect as an isolated finding at presentation.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
Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300 to Heart conduction disease, MONDO:0000992
Phenotypes for gene: EMD were changed from Emery-Dreifuss muscular dystrophy 1, X-linked 310300 to Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300
Source Expert Review Green was added to EMD. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: EMD were changed from to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Publications for gene: EMD were set to
Gene: emd has been classified as Amber List (Moderate Evidence).
gene: EMD was added gene: EMD was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females