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  3. GNAO1
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Cerebral Palsy

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

2 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

Additional 3 individuals with mono-allelic LP missense variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Created: 27 May 2024, 5:47 a.m. | Last Modified: 27 May 2024, 5:47 a.m.
Panel Version: 1.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 27 May 2024, 5:47 a.m.
Last Modified: 27 May 2024, 5:47 a.m.
Panel version: 1.193

Danielle Ariti (University of Melbourne)

Green List (high evidence)

>10 individuals in CP cohort reported with mono-allelic (de novo) GNAO1variants.
The majority of these individuals were diagnosed with Dyskinetic CP displaying progressive movement disorder (dystonia, athetosis and chorea), ID and often seizures.
Sources: Expert list
Created: 23 Sep 2021, 12:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral Palsy; Neurodevelopmental disorder with involuntary movements MIM# 617493

Publications

Created: 23 Sep 2021, 12:56 a.m.

Panel version: 0.121

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cerebral Palsy
  • Neurodevelopmental disorder with involuntary movements MIM# 617493
OMIM
139311
Clinvar variants
Variants in GNAO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Sep 2021, 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).

23 Sep 2021, 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).

23 Sep 2021, Gel status: 0

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

Danielle Ariti (University of Melbourne)

gene: GNAO1 was added gene: GNAO1 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAO1 were set to 33528536; 34364746; 33098801 Phenotypes for gene: GNAO1 were set to Cerebral Palsy; Neurodevelopmental disorder with involuntary movements MIM# 617493 Review for gene: GNAO1 was set to GREEN