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Skeletal dysplasia v1.153 ATP7A Eleanor Williams Added phenotypes Spinal muscular atrophy, distal, 300489; Menkes disease 309400; Occipital horn syndrome 304150 for gene: ATP7A
Skeletal dysplasia v1.147 ATP7A Tracy Lester reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Menkes disease 309400, Occipital horn syndrome 304150, Spinal muscular atrophy, distal, 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v1.146 ATP7A Eleanor Williams reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 ATP7A Eleanor Williams Source NHS GMS was added to ATP7A.
Rating Changed from Green List (high evidence) to Green List (high evidence)