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