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| DDG2P v3.12 | CEP290 | Achchuthan Shanmugasundram reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: 17705300, 16682970, 17554762, 22355252, 17564967, 17564974, 18327255, 16682973, 20690115, 16909394; Phenotypes: JOUBERT SYNDROME TYPE 5, OMIM:610188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CEP290 | Achchuthan Shanmugasundram Publications for gene: CEP290 were updated from 17705300; 17564974 to 17705300; 16682970; 17554762; 22355252; 17564967; 17564974; 18327255; 16682973; 20690115; 16909394 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CEP290 | Rebecca Foulger reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CEP290 |
Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 4 611134 for gene: CEP290 Publications for gene CEP290 were changed from 16682970; 16682973; 17564967 to 17705300; 17564974 |
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| DDG2P v0.1 | CEP290 |
Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 5 610188 for gene: CEP290 Publications for gene CEP290 were changed from 16909394; 17554762 to 16682970; 16682973; 17564967 |
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| DDG2P v0.1 | CEP290 |
Rebecca Foulger Added phenotypes LEBER CONGENITAL AMAUROSIS TYPE 10 611755 for gene: CEP290 Publications for gene CEP290 were changed from 16682973 to 16909394; 17554762 |
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| DDG2P v0.1 | CEP290 |
Rebecca Foulger Added phenotypes SENIOR-LOKEN SYNDROME TYPE 6 610189 for gene: CEP290 Publications for gene CEP290 were changed from to 16682973 |
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| DDG2P v0.1 | CEP290 |
Rebecca Foulger gene: CEP290 was added gene: CEP290 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP290 were set to BARDET-BIEDL SYNDROME TYPE 14 209900 |
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