KCNT1 Chromosome 9

Potassium sodium-activated channel subfamily T member 1
216 variants 216 Health Risk

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What This Gene Does
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
Potassium sodium-activated channel subfamily T
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000107147
Associated Conditions (25)
Developmental and epileptic encephalopathy
14
Autosomal dominant nocturnal frontal lobe epilepsy 5
Inborn genetic diseases
Intellectual disability
See cases
Self-limited epilepsy with centrotemporal spikes
KCNT1-related disorder
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Focal epilepsy
Hearing impairment
Hydrocephalus
Epileptic encephalopathy
Malignant migrating partial seizures of infancy
Seizure
Neurodevelopmental delay
15
+5 more conditions
Key Variants
RS1003586835
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1023136319
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1028292080
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1057522462
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1057522914
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy
Health Risk
RS1060505000
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1064794752
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1156662870
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1161862851
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1182743416
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1190253737
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
Health Risk
RS1193875216
Conflicting classifications of pathogenicity
See cases, Developmental and epileptic encephalopathy, 14
Health Risk
All Variants (216)
RSID Category Clinical Significance Conditions
RS752032951 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS752453368 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS752516170 Health Risk Conflicting classifications of pathogenicity See cases, Developmental and epileptic encephalopathy, 14
RS754383898 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS754629346 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS754823810 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS755796820 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS756112023 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS756570347 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS757210594 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS757811625 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS758069398 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS758152252 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS758308334 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS758311066 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS758465935 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS758589013 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS759337224 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS759531782 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS759561558 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS761045901 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS761464076 Health Risk Conflicting classifications of pathogenicity —
RS761954322 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 14
RS762251339 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 14
RS763400879 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS763557773 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS764574987 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS767200583 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS768536067 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS769083534 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS769406687 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS769422518 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS769855266 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS770039542 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS772080195 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS772892562 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS773621687 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Developmental and epileptic encephalopathy, 14
RS773718324 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS773874266 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS774588571 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS775458154 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS776232246 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS776239808 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS777479133 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS778629667 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS779012524 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS779262121 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS779379200 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS779430817 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS779590747 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
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