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Skeletal dysplasia v1.153 | EXT1 | Eleanor Williams Added phenotypes trichorhinophalangeal syndrome type 2 -150230; Exostoses, multiple, type 13370 for gene: EXT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | EXT1 | Tracy Lester reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Exostoses, multiple, type 13370, trichorhinophalangeal syndrome type 2 -150230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | EXT1 | Eleanor Williams reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | EXT1 |
Eleanor Williams Source NHS GMS was added to EXT1. Rating Changed from Green List (high evidence) to Green List (high evidence) |