Cardiomyopathies - including childhood onsetGene: DNAJC19
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
3-methylglutaconic aciduria, type V OMIM#610198
Created: 25 Mar 2019, 4:30 p.m.
Seems rare but in HGMD all variants DCM and truncating and in AR DCM: Ucar (2017) JIMD Rep 35: 39 PubMed: 27928778: case series of 19 affected patients including a 2 month old with DCM with ataxia (DCMA syndrome) . May be a rare candiate gene. Although there is sufficient evidence for this gene to be implicated in dilated cardiomyopathy with ataxia syndrome, as this is an early onset disease .
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to DNAJC19.
gene: DNAJC19 was added gene: DNAJC19 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 27426421; 27604308; 16055927; 27928778; 22797137 Phenotypes for gene: DNAJC19 were set to dilated cardiomyopathy with ataxia syndrome; 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system; 3-methylglutaconic aciduria, type V