| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe early-onset obesity v0.49 | CEP164 | Zornitza Stark Marked gene: CEP164 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.49 | CEP164 | Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.49 | CEP164 | Zornitza Stark Classified gene: CEP164 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.49 | CEP164 | Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v0.48 | CEP164 |
Zornitza Stark gene: CEP164 was added gene: CEP164 was added to Severe early-onset obesity. Sources: Expert list Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP164 were set to 34132027; 34013113; 32055034; 27708425; 22863007 Phenotypes for gene: CEP164 were set to Bardet-Biedl syndrome Review for gene: CEP164 was set to GREEN Added comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Obesity is a feature of BBS. Sources: Expert list |
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