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
RS1003586835 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1023136319 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1028292080 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1057522462 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1057522914 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Developmental and epileptic encephalopathy
RS1060505000 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1064794752 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1156662870 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1161862851 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1182743416 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1190253737 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1193875216 Health Risk Conflicting classifications of pathogenicity See cases, Developmental and epileptic encephalopathy, 14
RS1201438079 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1207174167 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1287458024 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS1303785635 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS1312042895 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1333549995 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1360446142 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1360863995 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1364101045 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS138282349 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Developmental and epileptic encephalopathy, 14
RS139076605 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS140367649 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1411700632 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS141281093 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS141695705 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS141802876 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS142424896 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS142756900 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS143355299 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS143536408 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy, 14
RS143678590 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS144118960 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS144421853 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS144766991 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS146070496 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS146152956 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS147306623 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS147551342 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS147654995 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS149927148 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS150447764 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS151272083 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1554778379 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1554779944 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1588255313 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1588407944 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1831067002 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS1834044297 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5
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