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| Limb disorders v0.272 | EBP | Eleanor Williams Marked gene: EBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.272 | EBP | Eleanor Williams Gene: ebp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v0.272 | EBP |
Eleanor Williams Source Expert Review Green was added to EBP. Mode of inheritance for gene EBP was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Polydactyly; Chondrodysplasia punctata, X-linked dominant 302960 for gene: EBP Publications for gene EBP were changed from to 10942423; 10391218; 10391219; 12509714 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Limb disorders v0.270 | EBP | Eleanor Williams reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10391218, 10391219, 10942423, 12509714; Phenotypes: Polydactyly, Chondrodysplasia punctata, X-linked dominant 302960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders | EBP | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||