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Severe Paediatric Disorders v0.17 | CEP290 | Louise Daugherty Mode of inheritance for gene CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CEP290 | Louise Daugherty reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CEP290 | Louise Daugherty Publications for gene CEP290 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CEP290 | Louise Daugherty Added phenotypes Leber congenital amaurosis 10, 611755; Senior-Loken syndrome 6, 610189; ?Bardet-Biedl syndrome 14, 615991; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134 for gene: CEP290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CEP290 | Louise Daugherty Added phenotypes Leber congenital amaurosis 10, 611755; Senior-Loken syndrome 6, 610189; ?Bardet-Biedl syndrome 14, 615991; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134 for gene: CEP290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CEP290 | Louise Daugherty Added phenotypes Leber congenital amaurosis 10, 611755; Senior-Loken syndrome 6, 610189; ?Bardet-Biedl syndrome 14, 615991; Joubert syndrome 5, 610188; Meckel syndrome 4, 611134 for gene: CEP290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CEP290 | Louise Daugherty Added phenotypes Meckel syndrome 4, 611134; Joubert syndrome 5, 610188; ?Bardet-Biedl syndrome 14, 615991; Leber congenital amaurosis 10, 611755; Senior-Loken syndrome 6, 610189 for gene: CEP290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CEP290 | Louise Daugherty Source Next Generation Children Project was added to CEP290. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CEP290 |
Louise Daugherty Source Expert Review Green was added to CEP290. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CEP290 |
Louise Daugherty gene: CEP290 was added gene: CEP290 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CEP290 was set to |