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Early-onset Parkinson disease

Gene: RIC3

Red List (low evidence)
RIC3 (RIC3 acetylcholine receptor chaperone)
EnsemblGeneIds (GRCh38): ENSG00000166405
EnsemblGeneIds (GRCh37): ENSG00000166405
OMIM: 610509, Gene2Phenotype
RIC3 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Segregation reported in a single Indian family (PMID: 27055476), with limited in vitro functional assays. The variant is present in the South Asian population in gnomAD v2.1 14/30,596 alleles. The association has not been replicated in any additional studies.
Sources: Other
Created: 29 Sep 2020, 12:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Parkinson disease

Publications

Created: 29 Sep 2020, 12:01 a.m.

Panel version: 0.85

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Parkinson disease
OMIM
610509
Clinvar variants
Variants in RIC3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ric3 has been classified as Red List (Low Evidence).

29 Sep 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RIC3 was added gene: RIC3 was added to Early-onset Parkinson disease. Sources: Other Mode of inheritance for gene: RIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RIC3 were set to 27055476; 28153381; 28606768; 32794657 Phenotypes for gene: RIC3 were set to Parkinson disease Review for gene: RIC3 was set to RED