Cardiomyopathies - including childhood onsetGene: TMEM43
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: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Arrhythmogenic right ventricular dysplasia 5 OMIM#604400;Emery-Dreifuss muscular dystrophy 7, AD OMIM#614302
Created: 25 Mar 2019, 4:30 p.m.
Well characterised ARVC gene in Newfoundland with a single variant - mainly age of onset in 30's. Other variants described:HGMD: five variants three ?DM through Walsh 2017 and 2 DM through Dal Ferro 2017.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to TMEM43.
gene: TMEM43 was added gene: TMEM43 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, AD 614302