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Skeletal dysplasia v1.153 | GALNT3 | Eleanor Williams Added phenotypes Tumoral calcinosis, hyperphosphatemic, familial I 211900 for gene: GALNT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | GALNT3 | Tracy Lester reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial I 211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | GALNT3 | Eleanor Williams reviewed gene: GALNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | GALNT3 |
Eleanor Williams Source NHS GMS was added to GALNT3. Rating Changed from Green List (high evidence) to Green List (high evidence) |