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| Bardet Biedl syndrome v0.22 | WDPCP | Ivone Leong Publications for gene: WDPCP were set to 20671153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.21 | WDPCP | Ivone Leong Classified gene: WDPCP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.21 | WDPCP | Ivone Leong Added comment: Comment on list classification: Demoted from green to amber. There are several unrelated cases of oral-facial-digital syndromes caused by variants in WDPCP; however, there is only 1 case of BBS (PMID: 28289185,25427950 and 27158779). Therefore, this gene has been demoted to amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.21 | WDPCP | Ivone Leong Gene: wdpcp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.11 | WDPCP | Tom Cullup reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: Kim et al 2010 PMID: 20671153; Phenotypes: ?Bardet-Biedl syndrome 15 615992, ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.6 | WDPCP |
Ivone Leong Source NHS GMS was added to WDPCP. Added phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; ?Bardet-Biedl syndrome 15, 615992 for gene: WDPCP Publications for gene WDPCP were changed from to 20671153 |
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| Bardet Biedl syndrome v0.2 | WDPCP |
Ivone Leong gene: WDPCP was added gene: WDPCP was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15, 615992 |
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