Ataxia - adult onset
Gene: DNAJC5

DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5)
EnsemblGeneIds (GRCh38): ENSG00000101152
EnsemblGeneIds (GRCh37): ENSG00000101152
OMIM: 611203, Gene2Phenotype
DNAJC5 is in 10 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

ClinGen Epilepsy GCEP gene-disease curation: Moderate, >3 families reported. Classification - 07/30/2021
Created: 14 May 2022, 11:26 p.m. | Last Modified: 14 May 2022, 11:26 p.m.

Panel Version: 0.14291

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant - MIM#162350; ceroid lipofuscinosis, neuronal, 4 (Kufs type) - MONDO:0008083

Publications

Created: 14 May 2022, 11:26 p.m.
Last Modified: 14 May 2022, 11:26 p.m.
Panel version: Imported from Mendeliome panel version 0.14291

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Royal Melbourne Hospital
Expert Review Green

Phenotypes

Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Ceroid neuronal lipofuscinosis 4, Parry type, 162350

OMIM

611203

Clinvar variants

Variants in DNAJC5

Penetrance

None

Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DNAJC5 was added gene: DNAJC5 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type 162350; Ceroid neuronal lipofuscinosis 4, Parry type, 162350

Ataxia - adult onset Gene: DNAJC5