Optic neuropathy
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- London North GLH
- Phenotypes
-
- 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 610198
- OMIM
- 608977
- Clinvar variants
- Variants in DNAJC19
- Penetrance
- None
- Publications
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Mitochondrial disorders
- Fetal anomalies
- 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
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
19 Mar 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: DNAJC19 were changed from to 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 610198
19 Mar 2019, Gel status: 1
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: DNAJC19 were set to
19 Mar 2019, Gel status: 1
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: DNAJC19 was changed from to BIALLELIC, autosomal or pseudoautosomal
19 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: DNAJC19 was added gene: DNAJC19 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: DNAJC19 was set to