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Skeletal dysplasia v1.153 | GNPAT | Eleanor Williams Added phenotypes Rhizomelic Chondrodysplasia Punctata; RCDP2; Rhizomelic chondrodysplasia punctata type 2; Chondrodysplasia punctata, rhizomelic, type 2, 222765 for gene: GNPAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | GNPAT | Tracy Lester reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RCDP2, Rhizomelic Chondrodysplasia Punctata, Chondrodysplasia punctata, rhizomelic, type 2, 222765, Rhizomelic chondrodysplasia punctata type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | GNPAT | Eleanor Williams reviewed gene: GNPAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | GNPAT |
Eleanor Williams Source NHS GMS was added to GNPAT. Rating Changed from Green List (high evidence) to Green List (high evidence) |