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Skeletal dysplasia v1.153 | ATP6V0A2 | Eleanor Williams Added phenotypes Cutis laxa, autosomal recessive, type IIA 219200 for gene: ATP6V0A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | ATP6V0A2 | Tracy Lester reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIA 219200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | ATP6V0A2 | Eleanor Williams reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | ATP6V0A2 |
Eleanor Williams Source NHS GMS was added to ATP6V0A2. Rating Changed from Green List (high evidence) to Green List (high evidence) |