Bilateral congenital or childhood onset cataracts
Gene: RIC1Comment on phenotypes: Pediatric posterior lenticonus cataract and global developmental delayCreated: 2 Jul 2020, 5:59 p.m. | Last Modified: 2 Jul 2020, 5:59 p.m.
Panel Version: 2.6
Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least one variant reported in numerous members of two families, who shared an autozygous interval, confirming Founder effect (PMID 27878435). Segregation was demonstrated, together with supportive functional and zebra fish model (PMID 31932796).Created: 2 Jul 2020, 5:58 p.m. | Last Modified: 2 Jul 2020, 5:58 p.m.
Panel Version: 2.4
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
Phenotypes for gene: RIC1 were changed from Pediatric posterior lenticonus cataract and global developmental delay to CATIFA syndrome 618761
Publications for gene: RIC1 were set to 27878435
Gene: ric1 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: RIC1.
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