×
Entrez Id:
154881
Gene Symbol:
KCTD7
KCTD7
0.120
GeneticVariation
group
BEFREE
Varying levels of evidence support their roles in neurocognitive disorders (KCTD3), neurodevelopmental disease (KCTD7 ), bipolar disorder (KCTD12), autism and schizophrenia (KCTD13), movement disorders (KCTD17 ), cancer (KCTD11), and obesity (KCTD15).
31197948
2019
×
Entrez Id:
154881
Gene Symbol:
KCTD7
KCTD7
0.120
GeneticVariation
group
BEFREE
Patients with KCTD7 mutations can exhibit movement disorders or developmental regression before seizure onset, and are distinguished from similar disorders by an earlier age of onset.
30295347
2018
×
Entrez Id:
154881
Gene Symbol:
KCTD7
KCTD7
0.120
GeneticVariation
group
CLINVAR
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
27742667
2016
×
Entrez Id:
154881
Gene Symbol:
KCTD7
KCTD7
0.120
GeneticVariation
group
CLINVAR
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
25060828
2014
×
Entrez Id:
154881
Gene Symbol:
KCTD7
KCTD7
0.120
GeneticVariation
group
CLINVAR
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
22748208
2012
×
Entrez Id:
154881
Gene Symbol:
KCTD7
KCTD7
0.120
GeneticVariation
group
CLINVAR
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
22638565
2012
×
Entrez Id:
154881
Gene Symbol:
KCTD7
KCTD7
0.120
GeneticVariation
group
CLINVAR
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.
22606975
2012
×
Entrez Id:
154881
Gene Symbol:
KCTD7
KCTD7
0.120
GeneticVariation
group
CLINVAR
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
22693283
2012
×
Entrez Id:
154881
Gene Symbol:
KCTD7
KCTD7
0.120
GeneticVariation
group
CLINVAR
Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.
21710140
2011
×
Entrez Id:
154881
Gene Symbol:
KCTD7
KCTD7
0.120
GeneticVariation
group
CLINVAR
Neuronal ceroid lipofuscinoses.
19084560
2009
×
Entrez Id:
154881
Gene Symbol:
KCTD7
KCTD7
0.120
GeneticVariation
group
CLINVAR
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.
17455289
2007
×
Entrez Id:
154881
Gene Symbol:
KCTD7
KCTD7
0.120
GeneticVariation
group
CLINVAR
Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.
15778103
2005