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Syndromic Retinopathy v0.171 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Syndromic Retinopathy v0.171 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.171 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from Leber congenital amaurosis; Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis) to Leber congenital amaurosis; Senior-Loken syndrome 5, MIM# 609254; MONDO:0012225
Syndromic Retinopathy v0.170 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Syndromic Retinopathy v0.169 IQCB1 Zornitza Stark reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5, MIM# 609254, MONDO:0012225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.0 IQCB1 Bryony Thompson gene: IQCB1 was added
gene: IQCB1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Leber congenital amaurosis; Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis)