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
RS199779214 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS200694691 Health Risk Conflicting classifications of pathogenicity Focal epilepsy, Developmental and epileptic encephalopathy, 14
RS201156458 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS2131520063 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS2131577612 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS2491078631 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS368480443 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS369562243 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS369966222 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS369983077 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS370046449 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS370085077 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS370090905 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS370155559 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS370580872 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS370800291 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS371135108 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS372998864 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS373041291 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS373317695 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS373365707 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS375711140 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS375749415 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS376231681 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS376314779 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS376757326 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS376758763 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS377687237 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS532620254 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS537722828 Health Risk Conflicting classifications of pathogenicity Hydrocephalus, Developmental and epileptic encephalopathy, 14
RS539139475 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS545094921 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS546333402 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS547714141 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS553389226 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS554828530 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS558966732 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS570983410 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS571757257 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS575162600 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS745575483 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS745590718 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS745609654 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 14
RS745658927 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS745979475 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy
RS747457929 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS747605326 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS748115007 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS748898708 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS750374521 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
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