Activity
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4 actions
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| DDG2P v3.12 | EBP | Achchuthan Shanmugasundram reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10942423, 10391218, 11038443, 10391219, 12503101; Phenotypes: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED, OMIM: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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | EBP | Achchuthan Shanmugasundram Publications for gene: EBP were updated from 10942423; 10391218; 10391219; 11038443; 12503101 to 10942423; 10391218; 11038443; 10391219; 12503101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | EBP | Rebecca Foulger reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | EBP |
Rebecca Foulger gene: EBP was added gene: EBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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) Publications for gene: EBP were set to 10942423; 10391218; 10391219; 11038443; 12503101 Phenotypes for gene: EBP were set to CHONDRODYSPLASIA PUNCTATA 2, X-LINKED 302960 |
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