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Intellectual disability

Gene: GNB2

Amber List (moderate evidence)

GNB2 (G protein subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000172354
EnsemblGeneIds (GRCh37): ENSG00000172354
OMIM: 139390, Gene2Phenotype
GNB2 is in 1 panel

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 7 Jul 2021, 12:02 p.m. | Last Modified: 7 Jul 2021, 12:02 p.m.
Panel Version: 3.1163
GNB2 is not yet associated with any phenotype in OMIM, but has a 'confirmed' disease confidence rating for 'GNB2-related developmental disorder (monoallelic)' in G2P.

At least 14 unrelated individuals with de novo monoallelic variants, including 5 recurrent variants in 13 individuals (PMIDs: 31698099; 33971351; 34183358). All patients (except one fetus owing to termination of pregnancy) have DD/ID of variable severity (mild to severe) which appeared to correlate with the variant each individual harboured. Other variable features include non-specific facial dysmorphism, hypotonia, and autistic behaviour.
Sources: Literature
Created: 7 Jul 2021, 12:01 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
Tags
Q3_21_rating
OMIM
139390
Clinvar variants
Variants in GNB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: gnb2 has been classified as Amber List (Moderate Evidence).

7 Jul 2021, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: GNB2 was added gene: GNB2 was added to Intellectual disability. Sources: Literature Q3_21_rating tags were added to gene: GNB2. Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB2 were set to 31698099; 33971351; 34183358 Phenotypes for gene: GNB2 were set to Intellectual disability Review for gene: GNB2 was set to GREEN