Cardiomyopathies - including childhood onsetGene: DTNA
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Left ventricular noncompaction 1, with or without congenital heart defects OMIM#604169
Created: 25 Mar 2019, 4:30 p.m.
HGMD: only 2 DM variants associated with LVNC and CHD and the other Menieres disease. Ichida F et al (2001). Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103: 1256-1263. and Tsujii (2018) Pediatr Int 60, 385 - triple mutation in Barth syndrome.
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 DTNA.
gene: DTNA was added gene: DTNA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,London South GLH,South West GLH Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1, with or without congenital heart defects,