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Skeletal dysplasia v1.153 | NOTCH2 | Eleanor Williams Added phenotypes Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500; Alagille syndrome 2 610205 for gene: NOTCH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | NOTCH2 | Tracy Lester reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Alagille syndrome 2 610205, Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | NOTCH2 | Eleanor Williams reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | NOTCH2 |
Eleanor Williams Source NHS GMS was added to NOTCH2. Rating Changed from Green List (high evidence) to Green List (high evidence) |