Undiagnosed metabolic disordersGene: DNAJC19
Comment 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, 1:25 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, 1:23 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 3 variants reported in at least 3 unrelated cases
Created: 19 Jan 2017, 2:46 p.m.
Publications for DNAJC19 were set to 27604308; 27928778; 27426421; 16055927
This gene has been classified as Green List (High Evidence).
Publications for DNAJC19 were set to 27604308; 27928778; 27426421; 1605592
Publications for DNAJC19 were set to 27604308; 27928778; 27426421
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
This gene has been classified as Amber List (Moderate Evidence).
Publications for DNAJC19 were set to 27604308; 27928778;
DNAJC19 was added to Undiagnosed metabolic disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198
DNAJC19 was added to Undiagnosed metabolic disorderspanel. Sources: Literature
DNAJC19 was created by sleigh