Early-onset Parkinson disease
Gene: DNAJC13
DNAJC13 (DnaJ heat shock protein family (Hsp40) member C13)
EnsemblGeneIds (GRCh38): ENSG00000138246
EnsemblGeneIds (GRCh37): ENSG00000138246
OMIM: 614334, Gene2Phenotype
DNAJC13 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000138246
EnsemblGeneIds (GRCh37): ENSG00000138246
OMIM: 614334, Gene2Phenotype
DNAJC13 is in 1 panel
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single family segregating a heterozygous missense (p.Asn855Ser) and supporting functional evidence. However, another group found a TMEM230 variant in the same family also with supporting functional evidence. Two missense reported in two other studies (PMID: 30788857 - p.Arg1382His; PMID: 29887357 - p.Arg903Lys) are more common in gnomAD v2.1 than would be expected for a dominant disorder.
Sources: Expert listCreated: 25 Mar 2020, 3:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Parkinson disease 21, MIM#616361
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 614334
- Clinvar variants
- Variants in DNAJC13
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
25 Mar 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dnajc13 has been classified as Red List (Low Evidence).
25 Mar 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications
Bryony Thompson (Royal Melbourne Hospital)gene: DNAJC13 was added gene: DNAJC13 was added to Early onset Parkinson disease. Sources: Expert list Mode of inheritance for gene: DNAJC13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC13 were set to 30788857; 24218364; 29309590; 31082451; 29887357; 27270108 Review for gene: DNAJC13 was set to AMBER