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| Structural eye disease v0.76 | CEP290 | Nicola Ragge reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: 30055837, 22355252; Phenotypes: Joubert syndrome 5, Senior-Loken syndrome 6, Meckel syndrome 4, Leber congenital amaurosis 10, ?Bardet-Biedl syndrome 14, 610188, 610189, 611134, 611755, 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | CEP290 | Ivone Leong reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: 30055837, 22355252; Phenotypes: Joubert syndrome 5, 610188, Senior-Loken syndrome 6, 610189, Meckel syndrome 4, 611134, Leber congenital amaurosis 10, 611755, ?Bardet-Biedl syndrome 14, 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.18 | CEP290 | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | CEP290 |
Ivone Leong 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) |
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| Structural eye disease v0.2 | CEP290 |
Ellen McDonagh 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 |
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