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| DDG2P v3.12 | OPHN1 | Achchuthan Shanmugasundram reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20528889, 12805098, 12807966, 9582072, 16158428; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED OPHN1-RELATED, OMIM:300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OPHN1 | Achchuthan Shanmugasundram Publications for gene: OPHN1 were updated from 12805098; 12807966; 16158428; 20528889; 9582072 to 20528889; 12805098; 12807966; 9582072; 16158428 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OPHN1 | Rebecca Foulger reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | OPHN1 |
Rebecca Foulger gene: OPHN1 was added gene: OPHN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OPHN1 were set to 12805098; 12807966; 16158428; 20528889; 9582072 Phenotypes for gene: OPHN1 were set to MENTAL RETARDATION X-LINKED OPHN1-RELATED 300486 |
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