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| Childhood onset dystonia, chorea or related movement disorder v0.7 | MKS1 |
Ellen McDonagh Source PanelApp was added to MKS1. Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene MKS1 was changed from to Other - please provide details in the comments Added phenotypes polydactyly; Joubert syndrome 28; Joubert syndrome; polycystic kidneys; occipital encephalocele; Meckel-Gruber syndrome; 249000; renal fibrosis; Meckel syndrome; Bardet-Biedl syndrome for gene: MKS1 Publications for gene MKS1 were changed from to 18327255; 26490104; 24886560; 17437276; 16415886 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | MKS1 |
Ellen McDonagh gene: MKS1 was added gene: MKS1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: MKS1 was set to |
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