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Skeletal dysplasia v1.153 | PAPSS2 | Eleanor Williams Added phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847 for gene: PAPSS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | PAPSS2 | Tracy Lester reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes 612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | PAPSS2 | Eleanor Williams reviewed gene: PAPSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | PAPSS2 |
Eleanor Williams Source NHS GMS was added to PAPSS2. Rating Changed from Green List (high evidence) to Green List (high evidence) |