| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe early-onset obesity v2.34 | CEP290 | Ivone Leong Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, 615991 to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.22 | CEP290 | Ivone Leong reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: 18327255, 23943788; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.22 | CEP290 | Ismaa Farooqi reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.21 | CEP290 |
Ivone Leong Source Expert list was added to CEP290. Source Expert Review Amber was added to CEP290. Publications for gene CEP290 were changed from to 23943788; 18327255 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Severe early-onset obesity v1.10 | CEP290 | Ivone Leong Phenotypes for gene: CEP290 were changed from Congenital Obesity to Congenital Obesity; ?Bardet-Biedl syndrome 14, 615991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.9 | CEP290 | Ivone Leong Mode of inheritance for gene: CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||