Gene: GNAO1

Alternate names for this Gene: DEE17|EIEE17|G-ALPHA-o|GNAO|HLA-DQB1|NEDIM

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q13

Description of this Gene: G protein subunit alpha o1

Type of Gene: protein-coding

rs62039274 in GNAO1 gene and Diastolic blood pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs11076146 in GNAO1 gene and Duration of sleep PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

rs1555508316 in GNAO1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 PMID 29961512 2018 Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.

PMID 26485252 2015 Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 23993195 2013 De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

rs797044878 in GNAO1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 PMID 28357411 2017 GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

PMID 26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

PMID 27068059 2016 Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 28688840 2017 Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

PMID 27625011 2016 Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.

rs797044951 in GNAO1 gene and Movement Disorders PMID 27068059 2016 Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

PMID 9050846 1997 G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart.

PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

PMID 21220323 2011 Augmented glucose-induced insulin release in mice lacking G(o2), but not G(o1) or G(i) proteins.

PMID 23993195 2013 De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

PMID 28747448 2017 Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.

PMID 28503590 2019 Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

PMID 28357411 2017 GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

PMID 26485252 2015 Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

rs797044951 in GNAO1 gene and Muscle hypotonia PMID 26485252 2015 Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

PMID 21220323 2011 Augmented glucose-induced insulin release in mice lacking G(o2), but not G(o1) or G(i) proteins.

PMID 23993195 2013 De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

PMID 28503590 2019 Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 28357411 2017 GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

PMID 26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

PMID 9050846 1997 G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart.

PMID 27068059 2016 Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

PMID 28747448 2017 Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.

rs587777057 in GNAO1 gene and X-linked infantile spasms PMID 26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

PMID 23993195 2013 De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

PMID 28202424 2017 GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype.

PMID 27072799 2016 GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.

PMID 28747448 2017 Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.