Previous cardiomyopathies - including childhood onset
Gene: DNAJC19
3-methylglutaconic aciduria, type V OMIM#610198Created: 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 London South GLH was added to DNAJC19.
Source South West GLH was added to DNAJC19.
Checked against the component panels and ready to promote to version 1.
Added phenotypes dilated cardiomyopathy with ataxia syndrome for gene: DNAJC19
Added phenotypes 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system for gene: DNAJC19 Publications for gene DNAJC19 were changed from 27604308; 27426421; 16055927; 27928778 to 16055927; 27604308; 27426421; 22797137; 27928778
gene: DNAJC19 was added gene: DNAJC19 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 27604308; 27426421; 16055927; 27928778 Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198; Disorders of the mitochondrial import system; 3-methylglutaconic aciduria, type V