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Skeletal dysplasia v2.203 | IHH | Arina Puzriakova Phenotypes for gene: IHH were changed from Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500 to Acrocapitofemoral dysplasia, OMIM:607778; Brachydactyly, type A1, OMIM:112500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.153 | IHH | Eleanor Williams Added phenotypes Acrocapitofemoral dysplasia 607778; Brachydactyly, type A1 112500 for gene: IHH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | IHH | Tracy Lester reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Acrocapitofemoral dysplasia 607778, Brachydactyly, type A1 112500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | IHH | Eleanor Williams reviewed gene: IHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | IHH |
Eleanor Williams Source NHS GMS was added to IHH. Rating Changed from Green List (high evidence) to Green List (high evidence) |