KCNJ10

Chr 1

potassium inwardly rectifying channel subfamily J member 10

Also known as: BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME

NCBI Gene: 3766 ENSG00000177807 UniProt: P78508

The protein functions as an inwardly rectifying potassium channel that contributes to potassium buffering by glial cells in the brain. Biallelic mutations cause SESAME syndrome (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance) and can contribute to enlarged vestibular aqueduct in a digenic pattern, both inherited in an autosomal recessive manner. The pathogenic mechanism appears to involve loss of normal channel function, disrupting potassium homeostasis in neural and other tissues.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSeizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance

Clinical highlights

Gene-disease validity (ClinGen)

enlarged vestibular aqueduct syndrome · ADDisputedevidence questions this relationship2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.76

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429