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Skeletal dysplasia v1.153 | ABCC9 | Eleanor Williams Added phenotypes Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome) for gene: ABCC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | ABCC9 | Tracy Lester reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypertrichotic osteochondrodysplasia 23985 (Cantu syndrome); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | ABCC9 | Eleanor Williams reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | ABCC9 |
Eleanor Williams Source NHS GMS was added to ABCC9. Rating Changed from Green List (high evidence) to Green List (high evidence) |