Gene: GNAO1 ×
Source: ALL
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 Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. 28503590

2019
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: 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 GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome. 28357411

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

2017
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: 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 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation. 26060304

2016
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: 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 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

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

2015
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: 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: 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: 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: 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 G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart. 9050846

1997
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587777057
rs587777057
GNAO1
0.020 GeneticVariation 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
dbSNP: rs587777057
rs587777057
GNAO1
0.020 GeneticVariation BEFREE GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype. 28202424

2017