Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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) |