Clefting
Gene: GNB1

GNB1 (G protein subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000078369
EnsemblGeneIds (GRCh37): ENSG00000078369
OMIM: 139380, Gene2Phenotype
GNB1 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of pathogenicity: Gen2Phen entry for GNB1 (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2121) lists the mutation consequence summary as Activating
Created: 14 Sep 2021, 6 p.m. | Last Modified: 14 Sep 2021, 6 p.m.

Panel Version: 2.49

Created: 14 Sep 2021, 6 p.m.
Last Modified: 14 Sep 2021, 6 p.m.
Panel version: 2.49

Louise Daugherty (Genomics England Curator)

Comment on list classification: Made amber as not enough evidence for clefting (2 cases). This gene is Green on v1.151 Intellectual disability panel
Created: 30 May 2017, 4:15 p.m.

Comment on publications: Two unrelated cases reported PMID: 27108799
Created: 30 May 2017, 4:13 p.m.

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

Phenotypes
Mental retardation, autosomal dominant 42, 616973

Created: 30 May 2017, 3:56 p.m.

Panel version: 0.267

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Mental retardation, autosomal dominant 42 OMIM:616973
intellectual disability, autosomal dominant 42 MONDO:0014855

OMIM

139380

Clinvar variants

Variants in GNB1

Penetrance

Complete

Publications

27108799

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

14 Sep 2021, Gel status: 2

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for gene: GNB1 was changed from to Other

14 Sep 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42, 616973 to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855

31 May 2017, Gel status: 2