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| DDG2P v3.12 | AP1S2 | Achchuthan Shanmugasundram reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17617514, 17186471, 12599187, 5054319, 10398241; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 59, OMIM:300630; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AP1S2 | Achchuthan Shanmugasundram Publications for gene: AP1S2 were updated from 17617514; 5054319; 10398241; 17186471; 12599187 to 17617514; 17186471; 12599187; 5054319; 10398241 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AP1S2 | Rebecca Foulger reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AP1S2 |
Rebecca Foulger gene: AP1S2 was added gene: AP1S2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AP1S2 were set to 17617514; 5054319; 10398241; 17186471; 12599187 Phenotypes for gene: AP1S2 were set to MENTAL RETARDATION X-LINKED TYPE 59 300630 |
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