KCNJ10 Chromosome 1
Potassium inwardly rectifying channel subfamily J member 10
Upload your DNA to see your personal genotypes for variants in KCNJ10.
What This Gene Does
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]
Gene Info
Gene Group
Potassium inwardly rectifying channel subfamily J
Locus Type
gene with protein product
Location
1q23.2
Ensembl
ENSG00000177807
Associated Conditions (17)
Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
Intellectual disability
Autism
Seizure
Inborn genetic diseases
KCNJ10-related disorder
Pendred syndrome
Hearing loss
autosomal recessive
SeSAME-like syndrome
Abnormality of the nervous system
Microcephaly
Cerebellar ataxia
Bilateral sensorineural hearing impairment
Renal tubular dysfunction
Spastic diplegia
Key Variants
RS1057523361
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS115120891
Conflicting classifications of pathogenicity
EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
Health Risk
RS115466046
Conflicting classifications of pathogenicity
EAST syndrome, Intellectual disability, Autism
Health Risk
RS116235450
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS116418256
Conflicting classifications of pathogenicity
EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
Health Risk
RS1274663711
Conflicting classifications of pathogenicity
Inborn genetic diseases, EAST syndrome, Seizure
Health Risk
RS137853074
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome, KCNJ10-related disorder
Health Risk
RS138457635
Conflicting classifications of pathogenicity
EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, Inborn genetic diseases
Health Risk
RS138511291
Conflicting classifications of pathogenicity
EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
Health Risk
RS138943405
Conflicting classifications of pathogenicity
EAST syndrome, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS139069413
Conflicting classifications of pathogenicity
EAST syndrome, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS141553756
Conflicting classifications of pathogenicity
EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, Inborn genetic diseases
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765409185 | Health Risk | Likely pathogenic | EAST syndrome, EAST syndrome, EAST syndrome |
| RS796052606 | Health Risk | Likely pathogenic | EAST syndrome, EAST syndrome |
| RS1288297948 | Health Risk | Pathogenic | — |
| RS137853066 | Health Risk | Pathogenic | EAST syndrome, Microcephaly, Cerebellar ataxia |
| RS137853068 | Health Risk | Pathogenic | EAST syndrome, EAST syndrome |
| RS137853069 | Health Risk | Pathogenic | EAST syndrome, EAST syndrome |
| RS137853070 | Health Risk | Pathogenic | EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome |
| RS137853072 | Health Risk | Pathogenic | EAST syndrome, EAST syndrome |
| RS1557967748 | Health Risk | Pathogenic | EAST syndrome, EAST syndrome |
| RS1571265496 | Health Risk | Pathogenic | SeSAME-like syndrome, SeSAME-like syndrome |
| RS1648624751 | Health Risk | Pathogenic | EAST syndrome, EAST syndrome |
| RS2525429636 | Health Risk | Pathogenic | EAST syndrome, EAST syndrome |
| RS2525430986 | Health Risk | Pathogenic | EAST syndrome, EAST syndrome |
| RS2525431053 | Health Risk | Pathogenic | EAST syndrome, EAST syndrome |
| RS2525431823 | Health Risk | Pathogenic | EAST syndrome, EAST syndrome |
| RS757159382 | Health Risk | Pathogenic | EAST syndrome, EAST syndrome |
| RS137853067 | Health Risk | Pathogenic/Likely pathogenic | EAST syndrome, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS137853071 | Health Risk | Pathogenic/Likely pathogenic | EAST syndrome, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |