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| Bardet Biedl syndrome v0.11 | CEP290 | Tom Cullup reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: Leitch et al 2008 PMID: 20177705, Valente et al 2006 PMID: 16682970, den Hollander et al 2006 PMID: 16909394, Baala et al 2007 PMID: 17160906, Sayer et al 2006 PMID: 16682973; Phenotypes: Bardet-Biedl syndrome 14 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10 611755, Meckel syndrome 4 611134, Senior-Loken syndrome 6 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.6 | CEP290 |
Ivone Leong gene: CEP290 was added gene: CEP290 was added to Bardet Biedl syndrome. Sources: NHS GMS Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP290 were set to 20177705; 17160906; 16682973; 16682970; 16909394 Phenotypes for gene: CEP290 were set to Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Bardet-Biedl syndrome 14, 615991; Meckel syndrome 4, 611134 |
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