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Skeletal dysplasia v1.153 | PTHLH | Eleanor Williams Added phenotypes Brachydactyly, type E2 613382 for gene: PTHLH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | PTHLH | Tracy Lester reviewed gene: PTHLH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brachydactyly, type E2 613382; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | PTHLH | Eleanor Williams reviewed gene: PTHLH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | PTHLH |
Eleanor Williams Source NHS GMS was added to PTHLH. Rating Changed from Green List (high evidence) to Green List (high evidence) |