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| DDG2P v3.12 | PAK3 | Achchuthan Shanmugasundram reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 12884430, 18523455, 8826460, 17853471, 24556213, 9332663; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED TYPE 30, OMIM:300558, AGENESIS OF THE CORPUS CALLOSUM; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAK3 | Achchuthan Shanmugasundram Publications for gene: PAK3 were updated from 17853471; 9332663; 8826460; 18523455; 12884430 to 12884430; 18523455; 8826460; 17853471; 24556213; 9332663 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PAK3 | Rebecca Foulger reviewed gene: PAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PAK3 |
Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 30 300558 for gene: PAK3 Publications for gene PAK3 were changed from 24556213 to 17853471; 9332663; 8826460; 18523455; 12884430 |
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| DDG2P v0.1 | PAK3 |
Rebecca Foulger gene: PAK3 was added gene: PAK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PAK3 were set to 24556213 Phenotypes for gene: PAK3 were set to AGENESIS OF THE CORPUS CALLOSUM |
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