Gene: GNAO1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044951
rs797044951
GNAO1
A 0.700 CausalMutation CLINVAR GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411

2017
dbSNP: rs797044951
rs797044951
GNAO1
A 0.700 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
dbSNP: rs797044951
rs797044951
GNAO1
A 0.700 CausalMutation CLINVAR Augmented glucose-induced insulin release in mice lacking G(o2), but not G(o1) or G(i) proteins. 21220323

2011
dbSNP: rs797044951
rs797044951
GNAO1
A 0.700 CausalMutation CLINVAR Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy. 26485252

2015
dbSNP: rs797044951
rs797044951
GNAO1
A 0.700 CausalMutation CLINVAR Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 28747448

2017
dbSNP: rs797044951
rs797044951
GNAO1
A 0.700 CausalMutation CLINVAR Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. 28503590

2019
dbSNP: rs797044951
rs797044951
GNAO1
A 0.700 CausalMutation CLINVAR Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. 27068059

2016
dbSNP: rs797044951
rs797044951
GNAO1
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 25966631

2016
dbSNP: rs797044951
rs797044951
GNAO1
A 0.700 CausalMutation CLINVAR Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation. 26060304

2016
dbSNP: rs797044951
rs797044951
GNAO1
A 0.700 CausalMutation CLINVAR De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. 23993195

2013
dbSNP: rs797044951
rs797044951
GNAO1
A 0.700 CausalMutation CLINVAR G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart. 9050846

1997
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 CausalMutation CLINVAR Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. 28503590

2019
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 CausalMutation CLINVAR GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411

2017
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 CausalMutation CLINVAR Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. 27068059

2016
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 CausalMutation CLINVAR Augmented glucose-induced insulin release in mice lacking G(o2), but not G(o1) or G(i) proteins. 21220323

2011
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 CausalMutation CLINVAR G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart. 9050846

1997
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 CausalMutation CLINVAR De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. 23993195

2013
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 CausalMutation CLINVAR Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 25966631

2016
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 CausalMutation CLINVAR Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy. 26485252

2015
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 CausalMutation CLINVAR Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 28747448

2017
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 CausalMutation CLINVAR Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation. 26060304

2016