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  3. GNAO1
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Dystonia - complex

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM and aforementioned PMID papers establish that 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, 10:03 p.m. | Last Modified: 30 Jan 2020, 10:03 p.m.
Panel Version: 0.16

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Jan 2020, 10:03 p.m.
Last Modified: 30 Jan 2020, 10:03 p.m.
Panel version: Imported from Dystonia panel version 0.16

Details

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

History Filter Activity

6 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnao1 has been classified as Green List (High Evidence).

6 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GNAO1 were set to

6 Sep 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: GNAO1 was changed from to Other

27 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GNAO1 was added gene: GNAO1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493