Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: GNAI2

No list

GNAI2 (G protein subunit alpha i2)
EnsemblGeneIds (GRCh38): ENSG00000114353
EnsemblGeneIds (GRCh37): ENSG00000114353
OMIM: 139360, Gene2Phenotype
GNAI2 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Lecoquierre et al. (2019) (PMID: 31036916) identified a de novo GNAI2 missense variant (p.Arg179His) in a proband with a syndromic developmental disorder. They highlighted that a distinct substitution of the same residue (p.Arg179Cys) had also been reported in the denovo-db database, in a patient with a developmental disorder. However, details regarding the exact phenotype are limited and therefore further characterisation is warranted. No function analysis was undertaken to validate the implication on GNAI2.

Hamada et al. (2017) (PMID: 27787898) reported a de novo heterozygous missense mutation (p.Ala227Val) in an individual with periventricular nodular heterotopia, seizures, and intellectual disability. Function studies in knockdown mice showed delayed radial migration of excitatory neurons during corticogenesis. Mice displayed abnormal social behaviours, altered anxiety, and learning deficits.

Not associated with the phenotype in OMIM or G2P.
Created: 8 Jul 2020, 8:08 a.m. | Last Modified: 8 Jul 2020, 8:08 a.m.
Panel Version: 3.156

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic developmental disorder

Publications

Zornitza Stark (Australian Genomics)

I don't know

Two individuals reported, some functional data.
Sources: Literature
Created: 23 Apr 2020, 4:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Syndromic intellectual disability
OMIM
139360
Clinvar variants
Variants in GNAI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: GNAI2 was added gene: GNAI2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAI2 were set to 31036916; 27787898 Phenotypes for gene: GNAI2 were set to Syndromic intellectual disability Review for gene: GNAI2 was set to AMBER