KCNB1 Chromosome 20
Potassium voltage-gated channel subfamily B member 1
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What This Gene Does
Voltage-gated potassium (Kv) 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Potassium voltage-gated channels|BTB domain containing"
Locus Type
gene with protein product
Location
20q13.13
Ensembl
ENSG00000158445
Associated Conditions (14)
Developmental and epileptic encephalopathy
26
KCNB1-related disorder
Inborn genetic diseases
Epileptic encephalopathy
See cases
Seizure
6 conditions
Intellectual disability
developmental encephalopathy with epilepsy
Myoclonic absence seizure
Epilepsy
Neurodevelopmental delay
Marfanoid habitus and intellectual disability
Key Variants
RS1131691752
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy
Health Risk
RS1209493320
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 26, KCNB1-related disorder
Health Risk
RS1256695300
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy
Health Risk
RS1276378675
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 26
Health Risk
RS1304300872
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy
Health Risk
RS1391326211
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy
Health Risk
RS142461221
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy
Health Risk
RS1433173706
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 26, Inborn genetic diseases
Health Risk
RS1447311755
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 26, Inborn genetic diseases
Health Risk
RS147498424
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 26, KCNB1-related disorder
Health Risk
RS1569017114
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy
Health Risk
RS1569017123
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Developmental and epileptic encephalopathy, 26
Health Risk
All Variants (145)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555889114 | Health Risk | Pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, 26 |
| RS1555889130 | Health Risk | Pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 26 |
| RS1555889157 | Health Risk | Pathogenic | — |
| RS1555889162 | Health Risk | Pathogenic | KCNB1-related disorder, Developmental and epileptic encephalopathy, 26 |
| RS1569017015 | Health Risk | Pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 26 |
| RS1569017045 | Health Risk | Pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 26 |
| RS1569017143 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1569017205 | Health Risk | Pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 26 |
| RS1569017337 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1601070652 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS1601071085 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS1601071971 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS1984242860 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS1984250919 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS1984251749 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS1984257835 | Health Risk | Pathogenic | — |
| RS2146813259 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS2146813554 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS2146813598 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS2146813695 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS2146813797 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS2146813853 | Health Risk | Pathogenic | — |
| RS2146813951 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS2146813954 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS2516851519 | Health Risk | Pathogenic | — |
| RS2516851652 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Intellectual disability |
| RS2516851803 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS2516852313 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS587777849 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS587777850 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS770677266 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 26, Inborn genetic diseases |
| RS886041617 | Health Risk | Pathogenic | — |
| RS886041743 | Health Risk | Pathogenic | KCNB1-related disorder, KCNB1-related disorder |
| RS1064794764 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS1555889110 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1569017073 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS1569017148 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, Developmental and epileptic encephalopathy, 26 |
| RS1569017257 | Health Risk | Pathogenic/Likely pathogenic | Epileptic encephalopathy, Neurodevelopmental delay, Developmental and epileptic encephalopathy |
| RS1601071071 | Health Risk | Pathogenic/Likely pathogenic | Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability |
| RS1984249721 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS1984252016 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Developmental and epileptic encephalopathy, 26 |
| RS1984257387 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 26, Developmental and epileptic encephalopathy |
| RS587777848 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 26, Inborn genetic diseases |
| RS781663444 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Developmental and epileptic encephalopathy, 26 |
| RS886039396 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 26, Intellectual disability |