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Skeletal dysplasia v1.153 | PSPH | Eleanor Williams Added phenotypes Phosphoserine phosphatase deficiency 614023 for gene: PSPH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | PSPH | Tracy Lester reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phosphoserine phosphatase deficiency 614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | PSPH | Eleanor Williams reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | PSPH |
Eleanor Williams Source NHS GMS was added to PSPH. Rating Changed from Green List (high evidence) to Green List (high evidence) |