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Skeletal dysplasia v2.105 | SLCO2A1 | Zornitza Stark reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.153 | SLCO2A1 | Eleanor Williams Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441 for gene: SLCO2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | SLCO2A1 | Tracy Lester reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | SLCO2A1 | Eleanor Williams reviewed gene: SLCO2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | SLCO2A1 |
Eleanor Williams Source NHS GMS was added to SLCO2A1. Rating Changed from Green List (high evidence) to Green List (high evidence) |