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Skeletal dysplasia v1.153 | HES7 | Eleanor Williams Added phenotypes Spondylocostal dysostosis 4, autosomal recessive 613686 for gene: HES7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | HES7 | Tracy Lester reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive 613686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | HES7 | Eleanor Williams reviewed gene: HES7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | HES7 |
Eleanor Williams Source NHS GMS was added to HES7. Rating Changed from Green List (high evidence) to Green List (high evidence) |