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Skeletal dysplasia v1.153 | GSC | Eleanor Williams Added phenotypes Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471 for gene: GSC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | GSC | Tracy Lester reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Foundation Trust) Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 602471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | GSC | Eleanor Williams reviewed gene: GSC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | GSC |
Eleanor Williams Source NHS GMS was added to GSC. Rating Changed from Green List (high evidence) to Green List (high evidence) |