Mitochondrial disorders
Gene: DNAJC19EnsemblGeneIds (GRCh38): ENSG00000205981
EnsemblGeneIds (GRCh37): ENSG00000205981
OMIM: 608977, Gene2Phenotype
DNAJC19 is in 15 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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, 1:27 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.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Disorders of the mitochondrial import system
- 3-methylglutaconic aciduria, type V, 610198
- OMIM
- 608977
- Clinvar variants
- Variants in DNAJC19
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Mitochondrial disorders
- Dilated Cardiomyopathy and conduction defects
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Hereditary ataxia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to DNAJC19. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DNAJC19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DNAJC19 were set to 16055927; 22797137; 27604308; 27928778; 27426421
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DNAJC19 were set to PMID: 16055927; 22797137; 27604308; 27928778; 27426421
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DNAJC19 were set to PMID: 16055927; 22797137
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DNAJC19 were set to Disorders of the mitochondrial import system; 3-methylglutaconic aciduria, type V, 610198
Added New Source
Ellen McDonagh (Genomics England Curator)DNAJC19 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)DNAJC19 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)DNAJC19 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen