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| Cerebral Palsy v1.193 | KCNT1 | Clare van Eyk reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy MIM#614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.98 | KCNT1 | Zornitza Stark Marked gene: KCNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.98 | KCNT1 | Zornitza Stark Gene: kcnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.98 | KCNT1 | Zornitza Stark Classified gene: KCNT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.98 | KCNT1 | Zornitza Stark Gene: kcnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | KCNT1 |
Luisa Weiss gene: KCNT1 was added gene: KCNT1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNT1 were set to 33528536; 34788679 Phenotypes for gene: KCNT1 were set to Developmental and epileptic encephalopathy MIM#614959 Review for gene: KCNT1 was set to GREEN Added comment: 4 cases in two large CP cohort studies. All of them are missense mutations, mostly confirmed de novo mutations. Sources: Literature |
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