GABRG2 Chromosome 5

Gamma-aminobutyric acid type A receptor subunit gamma2
152 variants 152 Health Risk

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What This Gene Does
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Gamma-aminobutyric acid type A receptor subunits
Locus Type
gene with protein product
Location
5q34
Ensembl
ENSG00000113327
Associated Conditions (21)
EPILEPSY
CHILDHOOD ABSENCE
SUSCEPTIBILITY TO
2
Febrile seizures
familial
8
Inborn genetic diseases
GABRG2-related disorder
Seizure
Developmental and epileptic encephalopathy
74
Intellectual disability
Charcot-Marie-Tooth disease
Self-limited epilepsy with centrotemporal spikes
Epilepsy
Autosomal dominant nocturnal frontal lobe epilepsy
Sudden unexplained death in childhood
Generalized epilepsy with febrile seizures plus 3
Lennox-Gastaut syndrome
+1 more conditions
Key Variants
RS1025917717
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS113085352
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS115126975
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS1262705178
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS1369739056
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS143295869
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS1445637165
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS150727562
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS1554097879
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS1554100507
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, 74
Health Risk
RS1761390378
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
RS1764627724
Conflicting classifications of pathogenicity
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
Health Risk
All Variants (152)
RSID Category Clinical Significance Conditions
RS1025917717 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS113085352 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS115126975 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS1262705178 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS1369739056 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS143295869 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS1445637165 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS150727562 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS1554097879 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS1554100507 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy, 74
RS1761390378 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS1764627724 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS191391831 Health Risk Conflicting classifications of pathogenicity Intellectual disability, GABRG2-related disorder, Intellectual disability
RS192973258 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS201824364 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS202124575 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS2113325423 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial, 8
RS2113598950 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS2113633149 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS2532726201 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS2532755903 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial, 8
RS369466385 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS371601817 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS375013278 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS375294947 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS375308385 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS375785093 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS398123523 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial, 8
RS528036202 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS562384157 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS587777365 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial, 8
RS587780341 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial, 8
RS587780948 Health Risk Conflicting classifications of pathogenicity —
RS61750979 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS727503941 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Febrile seizures, familial
RS749946230 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 74, EPILEPSY
RS750459631 Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Febrile seizures, familial
RS752621588 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS753097258 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial, 8
RS754884716 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS757868774 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS765703079 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS765904792 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS767423340 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS768061156 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial, 8
RS771660227 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS781498456 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO
RS796052502 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial, 8
RS796052509 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial, 8
RS796052515 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial, 8
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