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DDG2P v3.12 | MKS1 | Achchuthan Shanmugasundram reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17377820, 16415886; Phenotypes: BARDET-BIEDL SYNDROME TYPE 13, OMIM:615990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | MKS1 | Rebecca Foulger reviewed gene: MKS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | MKS1 | Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 13 209900 for gene: MKS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | MKS1 |
Rebecca Foulger gene: MKS1 was added gene: MKS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKS1 were set to 17377820; 16415886 Phenotypes for gene: MKS1 were set to MECKEL SYNDROME TYPE 1 249000 |