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| Bardet Biedl syndrome v0.28 | CEP19 | Zornitza Stark Marked gene: CEP19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.28 | CEP19 | Zornitza Stark Gene: cep19 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.28 | CEP19 |
Bryony Thompson gene: CEP19 was added gene: CEP19 was added to Bardet Biedl syndrome. Sources: Expert list Mode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP19 were set to 29127258; 24268657 Phenotypes for gene: CEP19 were set to Bardet Biedl syndrome Review for gene: CEP19 was set to RED Added comment: Single family with BBS phenotype reported with a homozygous predicted loss of function variant. Has been reported in another family with a morbid obesity syndrome. Sources: Expert list |
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