| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.83 | KCNC1 | Bryony Thompson Marked gene: KCNC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.83 | KCNC1 | Bryony Thompson Gene: kcnc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.83 | KCNC1 | Bryony Thompson Classified gene: KCNC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.83 | KCNC1 | Bryony Thompson Gene: kcnc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.82 | KCNC1 |
Bryony Thompson gene: KCNC1 was added gene: KCNC1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNC1 were set to 42347804; 40765656; 37203213; 34733949; 32972906; 31353862; 28380698; 27629860 Phenotypes for gene: KCNC1 were set to complex neurodevelopmental disorder, MONDO:0100038; progressive myoclonic epilepsy type 7, MONDO:0014521 Review for gene: KCNC1 was set to GREEN Added comment: Both progressive myoclonic epilepsy with ataxia (MEAK/EPM7) and milder epilepsy with ataxia phenotypes are associated with KCNC1 variants. PMID 28380698, PMID 27629860, PMID 40765656, PMID 32972906 and PMID 34733949 report 31 families (39 patients) with dominant‑negative loss‑of‑function KCNC1 variants causing progressive myoclonus epilepsy, seizures and cerebellar ataxia, fulfilling diagnostic criteria. PMID 31353862, PMID 42347804 and PMID 37203213 describe 6 families (6 patients) with de novo missense KCNC1 variants leading to epilepsy, mild developmental delay and non‑progressive ataxia, also meeting diagnostic criteria. Ataxia is a core feature of both disease spectrums, making KCNC1 a suitable gene for the Ataxia panel. Sources: Literature |
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