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| Skeletal dysplasia v1.153 | SLC26A2 | Eleanor Williams Added phenotypes ACG1B,DD,rMED; multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Recessive; Epiphyseal dysplasia, multiple, 4 for gene: SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.147 | SLC26A2 | Tracy Lester reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ACG1B,DD,rMED, multiple epiphyseal dysplasia, Multiple Epiphyseal Dysplasia, Recessive, Epiphyseal dysplasia, multiple, 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.146 | SLC26A2 | Eleanor Williams reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.145 | SLC26A2 |
Eleanor Williams Source NHS GMS was added to SLC26A2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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