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| Skeletal dysplasia v1.153 | HPGD | Eleanor Williams Added phenotypes Cranioosteoarthropathy 259100; Digital clubbing, isolated congenital 119900; Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100 for gene: HPGD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | HPGD | Tracy Lester reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cranioosteoarthropathy 259100, Digital clubbing, isolated congenital 119900, Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | HPGD | Eleanor Williams reviewed gene: HPGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | HPGD |
Eleanor Williams Source NHS GMS was added to HPGD. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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