Activity
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7 actions
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| DDG2P v3.12 | CASK | Achchuthan Shanmugasundram reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085948, 19200522, 19165920, 21954287, 19377476, 20029458; Phenotypes: MRX WITH/WITHOUT NYSTAGMUS, OMIM:300749, FG SYNDROME TYPE 4, OMIM:300422, INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED CASK-RELATED, OMIM:300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CASK | Achchuthan Shanmugasundram Publications for gene: CASK were updated from 21954287; 19165920 to 34085948; 19200522; 19165920; 21954287; 19377476; 20029458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.140 | CASK | Rebecca Foulger Mode of inheritance for gene: CASK was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CASK | Rebecca Foulger reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CASK |
Rebecca Foulger Added phenotypes MRX WITH/WITHOUT NYSTAGMUS 300749 for gene: CASK Publications for gene CASK were changed from 19377476; 19200522; 20029458 to 21954287; 19165920 |
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| DDG2P v0.1 | CASK |
Rebecca Foulger Added phenotypes FG SYNDROME TYPE 4 300422 for gene: CASK Publications for gene CASK were changed from 21954287; 19165920 to 19377476; 19200522; 20029458 |
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| DDG2P v0.1 | CASK |
Rebecca Foulger gene: CASK was added gene: CASK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CASK was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: CASK were set to 21954287; 19165920 Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED 300749 |
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