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DDG2P v3.12 | SRPX2 | Achchuthan Shanmugasundram reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: Other; Publications: 16497722; Phenotypes: BILATERAL PERISYLVIAN POLYMICROGYRIA, OMIM:300388; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | SRPX2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SRPX2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | SRPX2 | Rebecca Foulger reviewed gene: SRPX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | SRPX2 | Rebecca Foulger Added phenotypes BILATERAL PERISYLVIAN POLYMICROGYRIA 300388 for gene: SRPX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | SRPX2 |
Rebecca Foulger gene: SRPX2 was added gene: SRPX2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SRPX2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SRPX2 were set to 16497722 Phenotypes for gene: SRPX2 were set to ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED 300643 Mode of pathogenicity for gene: SRPX2 was set to Other - please provide details in the comments |