Possible mitochondrial disorder - nuclear genes
Gene: DNAJC19
DNAJC19 (DnaJ heat shock protein family (Hsp40) member C19)
EnsemblGeneIds (GRCh38): ENSG00000205981
EnsemblGeneIds (GRCh37): ENSG00000205981
OMIM: 608977, Gene2Phenotype
DNAJC19 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000205981
EnsemblGeneIds (GRCh37): ENSG00000205981
OMIM: 608977, Gene2Phenotype
DNAJC19 is in 15 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type V, 610198
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
-
- NHS GMS
- Expert Review Green
- Expert Review Green
- Phenotypes
-
- 3-methylglutaconic aciduria, type V, 610198
- OMIM
- 608977
- Clinvar variants
- Variants in DNAJC19
- Penetrance
- None
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia
- Fetal anomalies
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DNAJC19 was added gene: DNAJC19 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode 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