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Skeletal dysplasia v1.153 | SH3PXD2B | Eleanor Williams Added phenotypes Frank-ter Haar syndrome 249420 for gene: SH3PXD2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | SH3PXD2B | Tracy Lester reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frank-ter Haar syndrome 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | SH3PXD2B | Eleanor Williams reviewed gene: SH3PXD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | SH3PXD2B |
Eleanor Williams Source NHS GMS was added to SH3PXD2B. Rating Changed from Green List (high evidence) to Green List (high evidence) |