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Severe Paediatric Disorders v0.17 | CDKL5 | Louise Daugherty Mode of inheritance for gene CDKL5 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CDKL5 | Louise Daugherty reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CDKL5 | Louise Daugherty Publications for gene CDKL5 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CDKL5 | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 2, 300672 for gene: CDKL5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CDKL5 | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 2, 300672 for gene: CDKL5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CDKL5 | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 2, 300672 for gene: CDKL5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CDKL5 | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 2, 300672 for gene: CDKL5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CDKL5 | Louise Daugherty Source Next Generation Children Project was added to CDKL5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CDKL5 |
Louise Daugherty Source Expert Review Green was added to CDKL5. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CDKL5 |
Louise Daugherty gene: CDKL5 was added gene: CDKL5 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CDKL5 was set to |