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Skeletal dysplasia v1.153 | PIGV | Eleanor Williams Added phenotypes Hyperphosphatasia with mental retardation syndrome 1 239300 for gene: PIGV | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | PIGV | Tracy Lester reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1 239300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | PIGV | Eleanor Williams reviewed gene: PIGV: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | PIGV |
Eleanor Williams Source NHS GMS was added to PIGV. Rating Changed from Green List (high evidence) to Green List (high evidence) |