Ataxia and cerebellar anomalies - childhood onset
Gene: DNAJC5
DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5)
EnsemblGeneIds (GRCh38): ENSG00000101152
EnsemblGeneIds (GRCh37): ENSG00000101152
OMIM: 611203, Gene2Phenotype
DNAJC5 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000101152
EnsemblGeneIds (GRCh37): ENSG00000101152
OMIM: 611203, Gene2Phenotype
DNAJC5 is in 12 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 4, Parry type
- OMIM
- 611203
- Clinvar variants
- Variants in DNAJC5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Lysosomal storage disorder
- Neurodegenerative disorders, adult onset
- Ataxia and cerebellar anomalies - childhood onset
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Dystonia, chorea or related movement disorder, childhood onset
- Neuronal ceroid lipofuscinosis
- Undiagnosed metabolic disorders
- Hereditary ataxia, adult onset
- Hereditary ataxia
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DNAJC5 was added gene: DNAJC5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC5 were set to 27604308; 21820099 Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type