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| Skeletal dysplasia v0.36 | EBP | Zornitza Stark Marked gene: EBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.36 | EBP | Zornitza Stark Gene: ebp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.36 | EBP | Zornitza Stark Publications for gene: EBP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.35 | EBP | Crystle Lee reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509714; Phenotypes: Chondrodysplasia punctata, X-linked dominant (MIM#302960); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | EBP |
Zornitza Stark gene: EBP was added gene: EBP was added to Skeletal dysplasia. Sources: UKGTN,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: EBP were set to MEND syndrome; CDPXLD; MEND syndrome-300960 XLR.; X-linked dominant chondrodysplasia punctata; Chondrodysplasia punctata, X-linked dominant, 302960 |
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