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Skeletal dysplasia v1.153 | ENPP1 | Eleanor Williams Added phenotypes Hypophosphatemic rickets, autosomal recessive, 2 613312; Cole disease 615522 for gene: ENPP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | ENPP1 | Tracy Lester reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cole disease 615522, Hypophosphatemic rickets, autosomal recessive, 2 613312; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | ENPP1 | Eleanor Williams reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | ENPP1 |
Eleanor Williams Source NHS GMS was added to ENPP1. Rating Changed from Green List (high evidence) to Green List (high evidence) |