GNAO1 Chromosome 16
G protein subunit alpha o1
Upload your DNA to see your personal genotypes for variants in GNAO1.
What This Gene Does
The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"G protein subunits alpha, group i|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
16q13
Ensembl
ENSG00000087258
Associated Conditions (20)
Early-infantile DEE
Neurodevelopmental disorder with involuntary movements
GNAO1-related disorder
Inborn genetic diseases
Developmental and epileptic encephalopathy
17
Seizure
Dyskinesia
Chorea
Movement disorder
GNAO1-related developmental delay-seizures-movement disorder spectrum
Developmental delay
Abnormality of the nervous system
Choreoathetosis
Rare genetic intellectual disability
Microcephaly
GNAO1-Related Neurodevelopmental Disorder
1
Genetic developmental and epileptic encephalopathy
Epileptic encephalopathy
Key Variants
RS1263683170
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1265902011
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1271540719
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1288429932
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1297225571
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
RS1297388989
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with involuntary movements, GNAO1-related disorder, Neurodevelopmental disorder with involuntary movements
Health Risk
RS1309389793
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS1555499769
Conflicting classifications of pathogenicity
Inborn genetic diseases, Developmental and epileptic encephalopathy, Inborn genetic diseases
Health Risk
RS1567488305
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS2036182701
Conflicting classifications of pathogenicity
Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases
Health Risk
RS2037660713
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with involuntary movements, Inborn genetic diseases, Developmental and epileptic encephalopathy
Health Risk
RS2037724762
Conflicting classifications of pathogenicity
Early-infantile DEE, Early-infantile DEE
Health Risk
All Variants (98)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2543427201 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 17, Developmental and epileptic encephalopathy |
| RS2543432061 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with involuntary movements, Neurodevelopmental disorder with involuntary movements |
| RS2543432139 | Health Risk | Likely pathogenic | — |
| RS2543432175 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 17, Developmental and epileptic encephalopathy |
| RS546569747 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy, 17 |
| RS567136805 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS797044951 | Health Risk | Likely pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with involuntary movements, Developmental delay |
| RS878853051 | Health Risk | Likely pathogenic | — |
| RS1057518678 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements |
| RS1085307894 | Health Risk | Pathogenic | — |
| RS1555508316 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 17, Developmental and epileptic encephalopathy |
| RS1596787821 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 17, Early-infantile DEE |
| RS1596872804 | Health Risk | Pathogenic | Choreoathetosis, Inborn genetic diseases, Early-infantile DEE |
| RS2037920369 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2037920791 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2143272046 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 17, Early-infantile DEE |
| RS2143272162 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 17, Early-infantile DEE |
| RS2143272260 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS2143660403 | Health Risk | Pathogenic | Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy, 17 |
| RS2143664797 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2143664808 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2143664859 | Health Risk | Pathogenic | — |
| RS2143664861 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 17, Developmental and epileptic encephalopathy |
| RS2143665312 | Health Risk | Pathogenic | Neurodevelopmental disorder with involuntary movements, Neurodevelopmental disorder with involuntary movements |
| RS2143699590 | Health Risk | Pathogenic | — |
| RS2143699686 | Health Risk | Pathogenic | Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy, 17 |
| RS2143705016 | Health Risk | Pathogenic | Inborn genetic diseases, Early-infantile DEE, Inborn genetic diseases |
| RS2506529308 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 17, Developmental and epileptic encephalopathy |
| RS2506858241 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2506876806 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2543427284 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS587777054 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 17, Developmental and epileptic encephalopathy |
| RS587777055 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements |
| RS587777056 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 17, Developmental and epileptic encephalopathy |
| RS587777057 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements |
| RS758779535 | Health Risk | Pathogenic | Early-infantile DEE, Early-infantile DEE, Early-infantile DEE |
| RS869312939 | Health Risk | Pathogenic | Inborn genetic diseases, Developmental and epileptic encephalopathy, Early-infantile DEE |
| RS886039494 | Health Risk | Pathogenic | Neurodevelopmental disorder with involuntary movements, Inborn genetic diseases, Movement disorder |
| RS886041766 | Health Risk | Pathogenic | Early-infantile DEE, Developmental and epileptic encephalopathy, 1 |
| RS1057518440 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 17, Developmental and epileptic encephalopathy |
| RS1064794533 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy, 17 |
| RS1064795384 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS1085307876 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy, 17 |
| RS1555507477 | Health Risk | Pathogenic/Likely pathogenic | Early-infantile DEE, Early-infantile DEE |
| RS2543432234 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements |
| RS797044878 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with involuntary movements, Developmental and epileptic encephalopathy |
| RS797045599 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 17, Neurodevelopmental disorder with involuntary movements |
| RS886041715 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 17, Early-infantile DEE |