KCTD7

Chr 7

potassium channel tetramerization domain containing 7

Also known as: CLN14, EPM3

NCBI Gene: 154881ENSG00000243335UniProt: Q96MP8

This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpilepsy, progressive myoclonic 3, with or without intracellular inclusions

Clinical highlights

Gene-disease validity (ClinGen)
progressive myoclonus epilepsy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.65
LOEUF
LOF
Mechanism· G2P
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GeneReview available — KCTD7
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.65LOEUF
pLI 0.001
Z-score 2.90
OE 0.39 (0.24–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.47Z-score
OE missense 0.75 (0.67–0.84)
210 obs / 279.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.24–0.65)
0≤0.351.4
Missense OE?0.75 (0.67–0.84)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 10 / 25.9Missense obs/exp: 210 / 279.0Syn Z: 0.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KCTD7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients