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Intellectual disability - microarray and sequencing v3.421 UROS Arina Puzriakova Source Expert Review Red was added to UROS.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability - microarray and sequencing v3.254 UROS Arina Puzriakova commented on gene: UROS
Intellectual disability - microarray and sequencing v3.3 RPGRIP1 Zornitza Stark reviewed gene: RPGRIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 13, MIM# 608194, Leber congenital amaurosis 6, MIM# 613826; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.3 RPE65 Zornitza Stark reviewed gene: RPE65: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 2, MIM# 204100, Retinitis pigmentosa 20, MIM# 613794, Retinitis pigmentosa 87 with choroidal involvement, MIM# 618697; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.3 NMNAT1 Zornitza Stark reviewed gene: NMNAT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 9, MIM# 608553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing v3.3 UROS Zornitza Stark reviewed gene: UROS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Porphyria, congenital erythropoietic, MIM# 263700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability - microarray and sequencing UROS BRIDGE consortium edited their review of UROS
Intellectual disability - microarray and sequencing UROS Louise Daugherty classified UROS as amber
Intellectual disability - microarray and sequencing UROS Louise Daugherty commented on UROS
Intellectual disability - microarray and sequencing UROS BRIDGE consortium reviewed UROS