Paroxysmal Dyskinesia
Gene: GNAO1

GNAO1 (G protein subunit alpha o1)
EnsemblGeneIds (GRCh38): ENSG00000087258
EnsemblGeneIds (GRCh37): ENSG00000087258
OMIM: 139311, Gene2Phenotype
GNAO1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Loss of function mutations (PTCs and missense) cause EEIE, and gain of function mutations (missense, inframe deletion) cause NDIM. Almost all reports are de novo, rare parental mosaicism also reported (PMID: 30682224)
Created: 30 Jan 2020, 10:28 p.m. | Last Modified: 30 Jan 2020, 10:28 p.m.

Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements

Publications

Mode of pathogenicity
Other

Created: 30 Jan 2020, 10:28 p.m.
Last Modified: 30 Jan 2020, 10:28 p.m.
Panel version: 0.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Royal Children's Hospital Neurology Department
Victorian Clinical Genetics Services

Phenotypes

Epileptic encephalopathy, early infantile, 17
Neurodevelopmental disorder with involuntary movements

OMIM

139311

Clinvar variants

Variants in GNAO1

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene