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DDG2P v3.12 | COX7B | Achchuthan Shanmugasundram reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 9747372, 23122588; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN LESIONS, OMIM:300887; 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 | COX7B | Achchuthan Shanmugasundram Publications for gene: COX7B were updated from 23122588; 9747372 to 9747372; 23122588 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | COX7B | Rebecca Foulger reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | COX7B |
Rebecca Foulger gene: COX7B was added gene: COX7B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COX7B 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: COX7B were set to 23122588; 9747372 Phenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887 |