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| Bardet Biedl syndrome v0.24 | MKS1 | Ivone Leong reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.11 | MKS1 | Tom Cullup reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: Leitch et al 2008 PMID: 20177705, Kyttala et al 2006 PMID: 16415886, Romani et al 2014 PMID, 24886560; Phenotypes: Bardet-Biedl syndrome 13 615990, Meckel syndrome 1 249000, Joubert syndrome 28 617121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v0.6 | MKS1 |
Ivone Leong Source NHS GMS was added to MKS1. Added phenotypes Bardet-Biedl syndrome 13, 615990; Meckel syndrome 1, 249000; Joubert syndrome 28, 617121 for gene: MKS1 Publications for gene MKS1 were changed from to 16415886; 20177705; 4886560 |
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| Bardet Biedl syndrome v0.2 | MKS1 |
Ivone Leong gene: MKS1 was added gene: MKS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKS1 were set to Bardet-Biedl syndrome 13, 615990 |
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