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Cataracts v2.6 RIC1 Sarah Leigh Added comment: Comment on phenotypes: Pediatric posterior lenticonus cataract and global developmental delay
Cataracts v2.6 RIC1 Sarah Leigh Phenotypes for gene: RIC1 were changed from Pediatric posterior lenticonus cataract and global developmental delay to CATIFA syndrome 618761
Cataracts v2.5 RIC1 Sarah Leigh Publications for gene: RIC1 were set to 27878435
Cataracts v2.4 RIC1 Sarah Leigh Classified gene: RIC1 as Amber List (moderate evidence)
Cataracts v2.4 RIC1 Sarah Leigh Added comment: 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).
Cataracts v2.4 RIC1 Sarah Leigh Gene: ric1 has been classified as Amber List (Moderate Evidence).
Cataracts v2.3 RIC1 Sarah Leigh Tag watchlist tag was added to gene: RIC1.
Cataracts v1.32 RIC1 Ivone Leong Tag founder-effect tag was added to gene: RIC1.
Cataracts v1.32 RIC1 Ivone Leong reviewed gene: RIC1: Rating: RED; Mode of pathogenicity: ; Publications: 27878435; Phenotypes: ; Mode of inheritance:
Cataracts v1.30 RIC1 Ivone Leong 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