KCTD7 Chromosome 7
Potassium channel tetramerization domain containing 7
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What This Gene Does
This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
Gene Info
Gene Group
"BTB domain containing|KCTD family"
Locus Type
gene with protein product
Location
7q11.21
Ensembl
ENSG00000243335
Associated Conditions (11)
Progressive myoclonic epilepsy type 3
Inborn genetic diseases
KCTD7-related disorder
Epileptic encephalopathy
Intellectual disability
Neuronal ceroid lipofuscinosis
Progressive myoclonic epilepsy
Epilepsy
progressive myoclonic
3
with intracellular inclusions
Key Variants
RS139585796
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 3, Inborn genetic diseases, Progressive myoclonic epilepsy type 3
Health Risk
RS140932942
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 3, KCTD7-related disorder, Progressive myoclonic epilepsy type 3
Health Risk
RS145238250
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 3, Inborn genetic diseases, Progressive myoclonic epilepsy type 3
Health Risk
RS149255570
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 3, Inborn genetic diseases, Progressive myoclonic epilepsy type 3
Health Risk
RS199624315
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 3, Epileptic encephalopathy, Inborn genetic diseases
Health Risk
RS200415747
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
Health Risk
RS200575329
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
Health Risk
RS201296399
Conflicting classifications of pathogenicity
Inborn genetic diseases, Progressive myoclonic epilepsy type 3, Neuronal ceroid lipofuscinosis
Health Risk
RS368001837
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
Health Risk
RS372150992
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 3, Inborn genetic diseases, Progressive myoclonic epilepsy type 3
Health Risk
RS376944331
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
Health Risk
RS387907260
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 3, Neuronal ceroid lipofuscinosis, Progressive myoclonic epilepsy type 3
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS727502785 | Health Risk | Pathogenic | Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3 |
| RS796052688 | Health Risk | Pathogenic | — |
| RS141191660 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy type 3, KCTD7-related disorder, Progressive myoclonic epilepsy type 3 |
| RS387907246 | Health Risk | Pathogenic/Likely pathogenic | Epilepsy, progressive myoclonic, 3 |
| RS750811871 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Progressive myoclonic epilepsy type 3, Intellectual disability |
| RS1273966098 | Trait | Uncertain significance; Affects | Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3 |