| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.87 | KCTD7 | Bryony Thompson Marked gene: KCTD7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.87 | KCTD7 | Bryony Thompson Gene: kctd7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.87 | KCTD7 | Bryony Thompson Classified gene: KCTD7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.87 | KCTD7 | Bryony Thompson Gene: kctd7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.86 | KCTD7 |
Bryony Thompson gene: KCTD7 was added gene: KCTD7 was added to Ataxia. Sources: Literature Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCTD7 were set to 38231304; 27742667 Phenotypes for gene: KCTD7 were set to progressive myoclonic epilepsy type 3, MONDO:0012721 Review for gene: KCTD7 was set to GREEN Added comment: PMID 27742667 reports 2 individuals from 1 family with a homozygous frameshift KCTD7 variant presenting with early‑onset progressive myoclonic epilepsy, severe ataxia and neuroregression; functional assays show loss of K⁺ conductance and impaired glutamine transport. PMID 38231304 adds 42 individuals from 36 families (30 independent) with biallelic KCTD7 loss‑of‑function variants (including recurrent missense alleles) who exhibit drug‑resistant seizures, myoclonus, neuroregression and ataxia. The combined evidence of 31 independent families with ataxia. This association aligns with the Ataxia panel’s scope because ataxia is a core, frequently reported feature of KCTD7‑related progressive myoclonic epilepsy. Sources: Literature |
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