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| DDG2P v3.12 | CDKL5 | Achchuthan Shanmugasundram reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 19241098, 35934918, 17993579, 18809835, 15499549, 15689447, 19793311, 15492925, 16611748, 16813600, 19396824; Phenotypes: EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2, OMIM:300672; 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 | CDKL5 | Achchuthan Shanmugasundram Publications for gene: CDKL5 were updated from 19793311; 15689447; 17993579; 16611748; 15492925; 15499549; 18809835; 16813600; 19396824; 19241098 to 35934918; 17993579; 18809835; 19396824; 15499549; 15689447; 19793311; 15492925; 16611748; 16813600; 19241098 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CDKL5 | Rebecca Foulger reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CDKL5 |
Rebecca Foulger gene: CDKL5 was added gene: CDKL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDKL5 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: CDKL5 were set to 19793311; 15689447; 17993579; 16611748; 15492925; 15499549; 18809835; 16813600; 19396824; 19241098 Phenotypes for gene: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672 |
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