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Skeletal dysplasia v2.167 | SH3BP2 | Arina Puzriakova Phenotypes for gene: SH3BP2 were changed from Cherubism 118400 to Cherubism, OMIM:118400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.153 | SH3BP2 | Eleanor Williams Added phenotypes Cherubism 118400 for gene: SH3BP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | SH3BP2 | Tracy Lester reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cherubism 118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | SH3BP2 | Eleanor Williams reviewed gene: SH3BP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | SH3BP2 |
Eleanor Williams Source NHS GMS was added to SH3BP2. Rating Changed from Green List (high evidence) to Green List (high evidence) |