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Skeletal dysplasia v1.153 | TRAPPC2 | Eleanor Williams Added phenotypes Spondyloepiphyseal dysplasia tarda 313400 for gene: TRAPPC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | TRAPPC2 | Tracy Lester reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondyloepiphyseal dysplasia tarda 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | TRAPPC2 | Eleanor Williams reviewed gene: TRAPPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | TRAPPC2 |
Eleanor Williams Source NHS GMS was added to TRAPPC2. Rating Changed from Green List (high evidence) to Green List (high evidence) |