Cataracts

Gene: RIC1

Red List (low evidence)

RIC1 (RIC1 homolog, RAB6A GEF complex partner 1)
EnsemblGeneIds (GRCh38): ENSG00000107036
EnsemblGeneIds (GRCh37): ENSG00000107036
OMIM: 610354, Gene2Phenotype
RIC1 is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

RIC1 is not associated with a phenotype on OMIM or Gene2Phenotype. PMID: 27878435 reported on 2 consanguineous families from Saudi who have pediatric posterior lenticonus cataract and global developmental delay who have the same missense variant in RIC1. The authors suggested that this could be a founder effect. However, as this is the only reported case there is currently not enough evidence, this gene will be rated red.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pediatric posterior lenticonus cataract and global developmental delay
Tags
founder-effect
OMIM
610354
Clinvar variants
Variants in RIC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2019, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

Tag founder-effect tag was added to gene: RIC1.

28 Aug 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: RIC1 was added gene: RIC1 was added to Cataracts. Sources: Literature,Expert Review Red Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIC1 were set to 27878435 Phenotypes for gene: RIC1 were set to Pediatric posterior lenticonus cataract and global developmental delay