KCNC1

Chr 11AD

potassium voltage-gated channel subfamily C member 1

Also known as: EPM7, KV3.1, KV4, NGK2

NCBI Gene: 3746 ENSG00000129159 UniProt: P48547 OMIM: 176258

This gene encodes a voltage-gated potassium channel that controls potassium ion permeability across excitable cell membranes. Mutations cause progressive myoclonic epilepsy type 7, inherited in an autosomal dominant pattern. The high pLI score (0.99) and low LOEUF score (0.26) indicate the gene is highly intolerant to loss-of-function variants, suggesting haploinsufficiency as the likely pathogenic mechanism.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Epilepsy, progressive myoclonic 7MIM #616187

Clinical highlights

Gene-disease validity (ClinGen)

progressive myoclonus epilepsy · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.26

LOEUF· LoF intol.

GOF*

Mechanism· G2P

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GeneReview available — KCNC1