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DDG2P

Gene: GNB2

Green List (high evidence)
GNB2 (G protein subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000172354
EnsemblGeneIds (GRCh37): ENSG00000172354
OMIM: 139390, Gene2Phenotype
GNB2 is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for GNB2-related developmental disorder are definitive, monoallelic_autosomal and undetermined (PMIDs: 28219978, 31698099, 33057194, 34183358). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02876.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease GNB2-related developmental disorder (monoallelic) is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 28219978;33057194;34183358;31698099).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
OMIM:619503.0; GNB2-related developmental disorder (monoallelic); MONDO:0859185; GNB2-related developmental disorder

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GNB2-related developmental disorder (monoallelic)
OMIM
139390
Clinvar variants
Variants in GNB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: GNB2 was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GNB2 was added gene: GNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB2 were set to 28219978; 33057194; 34183358; 31698099 Phenotypes for gene: GNB2 were set to GNB2-related developmental disorder (monoallelic) Mode of pathogenicity for gene: GNB2 was set to Other