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| DDG2P v3.12 | CNKSR2 | Achchuthan Shanmugasundram reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25644381, 22511892; Phenotypes: INTELLECTUAL DISABILITY WITH EPILEPSY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CNKSR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CNKSR2. Publications for gene: CNKSR2 were updated from 22511892; 25644381 to 25644381; 22511892 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v2.78 | CNKSR2 | Eleanor Williams commented on gene: CNKSR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.53 | CNKSR2 | Dmitrijs Rots reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34266427; Phenotypes: Developmental delay, intellectual disability, seizures; 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 v0.2 | CNKSR2 | Rebecca Foulger reviewed gene: CNKSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CNKSR2 |
Rebecca Foulger gene: CNKSR2 was added gene: CNKSR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CNKSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CNKSR2 were set to 22511892; 25644381 Phenotypes for gene: CNKSR2 were set to INTELLECTUAL DISABILITY WITH EPILEPSY |
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