Mitochondrial disorders
Gene: DNAJC19Comment on list classification: Confirmed with the internal Clinical Team that this gene should be promoted to green due to sufficient evidence.Created: 18 Dec 2017, 1:27 p.m.
PMID 27426421 describes a patient with dilated cardiomyopathy with ataxia syndrome presenting with global developmental delay, hypotonia, ataxia, and dilated cardiomyopathy and a novel pathogenic variant in this gene. PMID 27928778 describes a boy at age 2 months with dilated cardiomyopathy (initially worsening then stabilizing in the second year of life), growth failure, bilateral cryptorchidism, and facial dysmorphism. Mental and motor developmental were, respectively, moderately and severely delayed. Profound intentional tremor and dyskinesia, spasticity (particularly at the lower extremities), and dystonia were observed.Created: 18 Dec 2017, 1:27 p.m.
Victorian Clinical Genetics Services was added to DNAJC19. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Mode of inheritance for DNAJC19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for DNAJC19 were set to 16055927; 22797137; 27604308; 27928778; 27426421
Publications for DNAJC19 were set to PMID: 16055927; 22797137; 27604308; 27928778; 27426421
This gene has been classified as Amber List (Moderate Evidence).
Publications for DNAJC19 were set to PMID: 16055927; 22797137
Phenotypes for DNAJC19 were set to Disorders of the mitochondrial import system; 3-methylglutaconic aciduria, type V, 610198
DNAJC19 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
DNAJC19 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
DNAJC19 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen