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Skeletal dysplasia v1.153 | ZMPSTE24 | Eleanor Williams Added phenotypes Mandibuloacral dysplasia with type B lipodystrophy 608612; Restrictive dermopathy, lethal 275210 for gene: ZMPSTE24 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | ZMPSTE24 | Tracy Lester reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy 608612, Restrictive dermopathy, lethal 275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | ZMPSTE24 | Eleanor Williams reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | ZMPSTE24 |
Eleanor Williams Source NHS GMS was added to ZMPSTE24. Rating Changed from Green List (high evidence) to Green List (high evidence) |