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Skeletal dysplasia v1.153 | PHGDH | Eleanor Williams Added phenotypes Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 for gene: PHGDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | PHGDH | Tracy Lester reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neu-Laxova syndrome 1 256520, Phosphoglycerate dehydrogenase deficiency 601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | PHGDH | Eleanor Williams reviewed gene: PHGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | PHGDH |
Eleanor Williams Source NHS GMS was added to PHGDH. Rating Changed from Green List (high evidence) to Green List (high evidence) |