Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Skeletal dysplasia v1.153 | HOXA13 | Eleanor Williams Added phenotypes Hand-foot-uterus syndrome 140000; Guttmacher syndrome 176305 for gene: HOXA13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | HOXA13 | Tracy Lester reviewed gene: HOXA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Guttmacher syndrome 176305, Hand-foot-uterus syndrome 140000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | HOXA13 | Eleanor Williams reviewed gene: HOXA13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | HOXA13 |
Eleanor Williams Source NHS GMS was added to HOXA13. Rating Changed from Green List (high evidence) to Green List (high evidence) |