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Skeletal dysplasia v8.4 SLCO2A1 Sarah Leigh Tag Q2_25_ MOI tag was added to gene: SLCO2A1.
Skeletal dysplasia v8.4 SLCO2A1 Sarah Leigh edited their review of gene: SLCO2A1: Added comment: SLCO2A1 variants are associated with autosomal recessive and autosomal dominant forms of primary hypertrophic osteoarthropathy (OMIM:614441, OMIM:167100) in numerous cases (PMID:23509104; 27134495; 33852188; 22331663; 27134495).; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v8.4 SLCO2A1 Sarah Leigh Publications for gene: SLCO2A1 were set to
Skeletal dysplasia v8.3 SLCO2A1 Sarah Leigh Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441; Hypertrophic osteoarthropathy, primary, autosomal recessive 2 614441 to Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441; hypertrophic osteoarthropathy, primary, autosomal recessive, 2, MONDO:0013756; Hypertrophic osteoarthropathy, primary, autosomal dominant, OMIM:167100; hypertrophic osteoarthropathy, primary, autosomal dominant, MONDO:0008172
Skeletal dysplasia v7.5 SLCO2A1 Dmitrijs Rots reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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)