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Skeletal dysplasia v1.153 | FAM58A | Eleanor Williams Added phenotypes STAR syndrome 300707 for gene: FAM58A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | FAM58A | Tracy Lester reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: STAR syndrome 300707; 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 | FAM58A | Eleanor Williams reviewed gene: FAM58A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | FAM58A |
Eleanor Williams Source NHS GMS was added to FAM58A. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Skeletal dysplasia | FAM58A | Louise Daugherty commented on FAM58A |