Structural eye disease
Gene: CEP290
Brooks: 2 families with coloboma; Yzer 1 familyCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 5; Senior-Loken syndrome 6; Meckel syndrome 4; Leber congenital amaurosis 10; ?Bardet-Biedl syndrome 14; 610188; 610189; 611134; 611755; 615991
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Brooks: 2 families with coloboma; Yzer 1 familyCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 5, 610188; Senior-Loken syndrome 6, 610189; Meckel syndrome 4, 611134; Leber congenital amaurosis 10, 611755; ?Bardet-Biedl syndrome 14, 615991
Publications
Phenotypes for gene: CEP290 were changed from Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991 to Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991
Source NHS GMS was added to CEP290. Source Expert Review Green was added to CEP290. Added phenotypes Joubert syndrome 5, 610188; Leber congenital amaurosis 10, 611755; Meckel syndrome 4, 611134; ?Bardet-Biedl syndrome 14, 615991; Senior-Loken syndrome 6, 610189 for gene: CEP290 Publications for gene CEP290 were changed from to 30055837, 22355252 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CEP290 was added gene: CEP290 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to Joubert syndrome 5