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Skeletal dysplasia v1.153 | EVC2 | Eleanor Williams Added phenotypes Ellis-van Creveld syndrome 225500; Weyers acrofacial dysostosis 193530 for gene: EVC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | EVC2 | Tracy Lester reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ellis-van Creveld syndrome 225500, Weyers acrofacial dysostosis 193530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | EVC2 | Eleanor Williams reviewed gene: EVC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | EVC2 |
Eleanor Williams Source NHS GMS was added to EVC2. Rating Changed from Green List (high evidence) to Green List (high evidence) |