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Skeletal dysplasia v1.153 | ANKH | Eleanor Williams Added phenotypes Chondrocalcinosis 2 118600; Craniometaphyseal dysplasia 123000 for gene: ANKH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | ANKH | Tracy Lester reviewed gene: ANKH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chondrocalcinosis 2 118600, Craniometaphyseal dysplasia 123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | ANKH | Eleanor Williams reviewed gene: ANKH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | ANKH |
Eleanor Williams Source NHS GMS was added to ANKH. Rating Changed from Green List (high evidence) to Green List (high evidence) |