Progressive cardiac conduction disease

Gene: EMD

Green List (high evidence)

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

I don't know

Comment on phenotypes: This gene is also associated with Emery-Dreifuss muscular dystrophy 1, X-linked OMIM:310300

Created: 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

I don't know

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

• 29349559

Green List (high evidence)

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