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| Neurological ciliopathies v0.3 | MKS1 |
Ellen McDonagh gene: MKS1 was added gene: MKS1 was added to Neurological ciliopathies. Sources: Expert Review Green Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MKS1 were set to 26490104; 17437276; 18327255; 24886560; 16415886 Phenotypes for gene: MKS1 were set to occipital encephalocele; Joubert syndrome; Bardet-Biedl syndrome; Joubert syndrome 28; 249000; polydactyly; polycystic kidneys; Meckel-Gruber syndrome; Meckel syndrome; renal fibrosis Mode of pathogenicity for gene: MKS1 was set to Other - please provide details in the comments |
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