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Skeletal dysplasia v1.153 | RBM8A | Eleanor Williams Added phenotypes Thrombocytopenia-absent radius syndrome 274000 for gene: RBM8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | RBM8A | Tracy Lester reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome 274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | RBM8A | Eleanor Williams reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | RBM8A |
Eleanor Williams Source NHS GMS was added to RBM8A. Rating Changed from Green List (high evidence) to Green List (high evidence) |