Dilated Cardiomyopathy and conduction defects
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 . May be a rare candiate gene but paediatric onsetCreated: 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
Comment on list classification: Although there is sufficient evidence for this gene to be implicated in dilated cardiomyopathy with ataxia syndrome, as this is an early onset disease it is inappropriate for it to be Green on this panel.Created: 18 Dec 2017, 1:55 p.m.
Source South West GLH was added to DNAJC19.
Publications for DNAJC19 were set to 16055927; 22797137; 27604308; 27928778; 27426421
Mode of inheritance for DNAJC19 was changed from to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
Phenotypes for DNAJC19 were set to dilated cardiomyopathy with ataxia syndrome
DNAJC19 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list