Dystonia - childhood onset

Gene: GNAO1

Green List (high evidence)

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

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with involuntary movements, 617493
Tags
mosaicism
OMIM
139311
Clinvar variants
Variants in GNAO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag mosaicism tag was added to gene: GNAO1.

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: GNAO1 was added gene: GNAO1 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAO1 were set to 27068059; 27625011; 26060304; 25966631; 28357411 Phenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493