Gene: GNAO1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 Biomarker group BEFREE GNAO1-related MD consisted of a severe early-onset hyperkinetic syndrome, with prominent chorea, dystonia and orofacial dyskinesia. 30642806 2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 GeneticVariation group BEFREE Here we develop a mouse model carrying a human GNAO1 mutation (G203R) and determine whether the clinical features of patients with this GNAO1 mutation, which includes both epilepsy and movement disorder, would be evident in the mouse model. 30682176 2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 GeneticVariation group BEFREE Concurrent movement disorders are also a prominent feature in the spectrum of GNAO1 encephalopathy. 30682224 2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. 28503590 2019
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 Biomarker group CLINGEN A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features. 29935962 2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 Biomarker group BEFREE GNAO1 has been recently identified to be involved in the pathogenesis of early infantile epileptic encephalopathy and movement disorders. 30103967 2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 GeneticVariation group BEFREE Here we review a mechanistic model in which loss-of-function (LOF) GNAO1 alleles cause epilepsy and gain-of-function (GOF) alleles are primarily associated with movement disorders. 29758257 2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411 2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 GeneticVariation group BEFREE A case of severe movement disorder with GNAO1 mutation responsive to topiramate. 27916449 2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 Biomarker group CLINGEN GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411 2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 GeneticVariation group BEFREE GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype. 28202424 2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 28747448 2017
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 Biomarker group CLINGEN The authors report 2 cases of brothers with a severe movement disorder and hypotonia without epilepsy who have been confirmed by whole exome sequencing to have a novel mutation in GNAO1. 26060304 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 GeneticVariation group BEFREE Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder. 27625011 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 25966631 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR The authors report 2 cases of brothers with a severe movement disorder and hypotonia without epilepsy who have been confirmed by whole exome sequencing to have a novel mutation in GNAO1. 26060304 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 Biomarker group CLINGEN Patients with GNAO1 mutations can present with a severe, progressive movement disorder in the absence of epilepsy. 27068059 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR Patients with GNAO1 mutations can present with a severe, progressive movement disorder in the absence of epilepsy. 27068059 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 GeneticVariation group BEFREE The authors report 2 cases of brothers with a severe movement disorder and hypotonia without epilepsy who have been confirmed by whole exome sequencing to have a novel mutation in GNAO1. 26060304 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 Biomarker group CLINGEN Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder. 27625011 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 GeneticVariation group BEFREE Patients with GNAO1 mutations can present with a severe, progressive movement disorder in the absence of epilepsy. 27068059 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 Biomarker group CLINGEN Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 25966631 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy. 26485252 2015
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.500 CausalMutation group CLINVAR De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. 23993195 2013