Early-onset Parkinson disease
Gene: RAB32EnsemblGeneIds (GRCh38): ENSG00000118508
EnsemblGeneIds (GRCh37): ENSG00000118508
OMIM: 612906, Gene2Phenotype
RAB32 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
18 additional individuals reported with the same variant. Upgraded to Amber -- consider reporting this variant ONLY.Created: 23 Aug 2024, 1:50 a.m. | Last Modified: 23 Aug 2024, 1:50 a.m.
Panel Version: 2.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923
Publications
Bryony Thompson (Royal Melbourne Hospital)
A single variant in RAB32 - c.213C>G p.(Ser71Arg) with a significant association with PD (odds ratio [OR] 13.17, 95% CI 2.15-87.23; p=0.0055, 6,043 PD cases and 62,549 controls).
The variant cosegregated with autosomal dominant PD in 3 families (9 affected individuals), with incomplete penetrance. In vitro studies demonstrate that RAB32 Ser71Arg activates LRRK2 kinase.
The variant is reported as a novel reduced penetrance PD risk factor. The 95% CI for the OR estimate are very wide. A confirmatory study is required for this variant.
Sources: LiteratureCreated: 30 Apr 2024, 8:24 a.m. | Last Modified: 1 May 2024, 2:09 a.m.
Panel Version: 2.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Parkinson disease MONDO:0005180
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923
- OMIM
- 612906
- Clinvar variants
- Variants in RAB32
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RAB32 were changed from Parkinson disease MONDO:0005180 to {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RAB32 were set to 38614108; 38858457
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RAB32 were set to 38614108
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rab32 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rab32 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: RAB32 was added gene: RAB32 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: RAB32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB32 were set to 38614108 Phenotypes for gene: RAB32 were set to Parkinson disease MONDO:0005180 Mode of pathogenicity for gene: RAB32 was set to Other Review for gene: RAB32 was set to AMBER