Activity
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6 actions
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| Early onset or syndromic epilepsy v6.7 | KCNB2 | Arina Puzriakova Tag gene-checked tag was added to gene: KCNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.18 | KCNB2 | Achchuthan Shanmugasundram Classified gene: KCNB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.18 | KCNB2 | Achchuthan Shanmugasundram Gene: kcnb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.18 | KCNB2 | Achchuthan Shanmugasundram Classified gene: KCNB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.18 | KCNB2 | Achchuthan Shanmugasundram Gene: kcnb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v5.17 | KCNB2 |
Achchuthan Shanmugasundram gene: KCNB2 was added gene: KCNB2 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: KCNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNB2 were set to 38503299 Phenotypes for gene: KCNB2 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: KCNB2 was set to AMBER Added comment: PMID:38503299 reported seven unrelated individuals with monoallelic KCNB2 variants and neurodevelopmental disorder, of which two of them had seizures. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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