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Skeletal dysplasia v1.153 | PIK3R1 | Eleanor Williams Added phenotypes SHORT syndrome 269880 for gene: PIK3R1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | PIK3R1 | Tracy Lester reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT syndrome 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | PIK3R1 | Eleanor Williams reviewed gene: PIK3R1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | PIK3R1 |
Eleanor Williams Source NHS GMS was added to PIK3R1. Rating Changed from Green List (high evidence) to Green List (high evidence) |