Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Skeletal dysplasia v1.153 | WNT7A | Eleanor Williams Added phenotypes Ulna and fibula, absence of, with severe limb deficiency 276820; Fuhrmann syndrome 228930 for gene: WNT7A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | WNT7A | Tracy Lester reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fuhrmann syndrome 228930, Ulna and fibula, absence of, with severe limb deficiency 276820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | WNT7A | Eleanor Williams reviewed gene: WNT7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | WNT7A |
Eleanor Williams Source NHS GMS was added to WNT7A. Rating Changed from Green List (high evidence) to Green List (high evidence) |