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| DDG2P v3.12 | ARX | Achchuthan Shanmugasundram reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: ; Publications: 12379852, 21108397, 19606478, 18462864, 19738637, 14722918, 10353782, 12177367, 17668384, 1605226, 11891829, 21204226, 11971879, 11889467; Phenotypes: PARTINGTON SYNDROME, OMIM:309510, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED ARX-RELATED, OMIM:300419; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ARX | Achchuthan Shanmugasundram Publications for gene: ARX were updated from 14722918; 11891829; 12379852 to 12379852; 21108397; 19606478; 18462864; 19738637; 11971879; 10353782; 12177367; 17668384; 1605226; 11891829; 21204226; 14722918; 11889467 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ARX | Rebecca Foulger reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ARX |
Rebecca Foulger Added phenotypes LISSENCEPHALY X-LINKED TYPE 2 300215 for gene: ARX Publications for gene ARX were changed from 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397 to 14722918; 11891829; 12379852 |
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| DDG2P v0.1 | ARX |
Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350 for gene: ARX Publications for gene ARX were changed from 1605226 to 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397 |
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| DDG2P v0.1 | ARX | Rebecca Foulger Added phenotypes PARTINGTON SYNDROME 309510 for gene: ARX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ARX |
Rebecca Foulger Added phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004 for gene: ARX Publications for gene ARX were changed from 21204226; 11971879 to 1605226 |
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| DDG2P v0.1 | ARX |
Rebecca Foulger gene: ARX was added gene: ARX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ARX were set to 21204226; 11971879 Phenotypes for gene: ARX were set to MENTAL RETARDATION X-LINKED ARX-RELATED 300419 |
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