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Skeletal dysplasia v1.153 | GALNS | Eleanor Williams Added phenotypes Mucopolysaccharidosis IVA 253000 for gene: GALNS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | GALNS | Tracy Lester reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis IVA 253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | GALNS | Eleanor Williams reviewed gene: GALNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | GALNS |
Eleanor Williams Source NHS GMS was added to GALNS. Rating Changed from Green List (high evidence) to Green List (high evidence) |