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Skeletal dysplasia v1.153 | SF3B4 | Eleanor Williams Added phenotypes Acrofacial dysostosis 1, Nager type 154400 for gene: SF3B4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | SF3B4 | Tracy Lester reviewed gene: SF3B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acrofacial dysostosis 1, Nager type 154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | SF3B4 | Eleanor Williams reviewed gene: SF3B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | SF3B4 |
Eleanor Williams Source NHS GMS was added to SF3B4. Rating Changed from Green List (high evidence) to Green List (high evidence) |