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Skeletal dysplasia v1.153 | SALL4 | Eleanor Williams Added phenotypes Okihiro (Duane-radial ray) syndrome 607323; IVIC syndrome 147750 for gene: SALL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | SALL4 | Tracy Lester reviewed gene: SALL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Okihiro (Duane-radial ray) syndrome 607323, IVIC syndrome 147750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | SALL4 | Eleanor Williams reviewed gene: SALL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | SALL4 |
Eleanor Williams Source NHS GMS was added to SALL4. Rating Changed from Green List (high evidence) to Green List (high evidence) |