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Intellectual disability syndromic and non-syndromic

Gene: GNAI2

Amber List (moderate evidence)

GNAI2 (G protein subunit alpha i2)
EnsemblGeneIds (GRCh38): ENSG00000114353
EnsemblGeneIds (GRCh37): ENSG00000114353
OMIM: 139360, Gene2Phenotype
GNAI2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals reported, some functional data.
Sources: Literature
Created: 20 Apr 2020, 10:33 a.m. | Last Modified: 20 Apr 2020, 10:34 a.m.
Panel Version: 0.2548

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
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic intellectual disability
OMIM
139360
Clinvar variants
Variants in GNAI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnai2 has been classified as Amber List (Moderate Evidence).

20 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gnai2 has been classified as Amber List (Moderate Evidence).

20 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAI2 was added gene: GNAI2 was added to Intellectual disability syndromic and non-syndromic. 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 Phenotypes for gene: GNAI2 were set to Syndromic intellectual disability Review for gene: GNAI2 was set to RED