Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | NAA10 | Achchuthan Shanmugasundram reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: ; Publications: 24431331, 30842225, 21700266, 25099252; Phenotypes: X-linked anophthalmia syndrome, OGDEN SYNDROME, OMIM:300855, NONPECIFIC SEVERE ID; 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 | NAA10 | Achchuthan Shanmugasundram Publications for gene: NAA10 were updated from 24431331 to 24431331; 30842225; 21700266; 25099252 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | NAA10 | Rebecca Foulger reviewed gene: NAA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | NAA10 |
Rebecca Foulger Added phenotypes X-linked anophthalmia syndrome/Lenz for gene: NAA10 Publications for gene NAA10 were changed from 21700266 to 24431331 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | NAA10 | Rebecca Foulger Added phenotypes X-linked anophthalmia syndrome for gene: NAA10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | NAA10 |
Rebecca Foulger Added phenotypes OGDEN SYNDROME 300855 for gene: NAA10 Publications for gene NAA10 were changed from 25099252 to 21700266 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | NAA10 |
Rebecca Foulger gene: NAA10 was added gene: NAA10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NAA10 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: NAA10 were set to 25099252 Phenotypes for gene: NAA10 were set to NONPECIFIC SEVERE ID |