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Skeletal dysplasia v1.153 | PTDSS1 | Eleanor Williams Added phenotypes Lenz-Majewski hyperostotic dwarfism 151050 for gene: PTDSS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | PTDSS1 | Tracy Lester reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lenz-Majewski hyperostotic dwarfism 151050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | PTDSS1 | Eleanor Williams reviewed gene: PTDSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | PTDSS1 |
Eleanor Williams Source NHS GMS was added to PTDSS1. Rating Changed from Green List (high evidence) to Green List (high evidence) |