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Skeletal dysplasia v1.153 | HDAC8 | Eleanor Williams Added phenotypes Wilson-Turner syndrome 309585; Cornelia de Lange syndrome 5 300882 for gene: HDAC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | HDAC8 | Tracy Lester reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cornelia de Lange syndrome 5 300882, Wilson-Turner syndrome 309585; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | HDAC8 | Eleanor Williams reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | HDAC8 |
Eleanor Williams Source NHS GMS was added to HDAC8. Rating Changed from Green List (high evidence) to Green List (high evidence) |