Clefting
Gene: GNB1Comment on mode of pathogenicity: Gen2Phen entry for GNB1 (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2121) lists the mutation consequence summary as ActivatingCreated: 14 Sep 2021, 6 p.m. | Last Modified: 14 Sep 2021, 6 p.m.
Panel Version: 2.49
Comment on list classification: Made amber as not enough evidence for clefting (2 cases). This gene is Green on v1.151 Intellectual disability panelCreated: 30 May 2017, 4:15 p.m.
Comment on publications: Two unrelated cases reported PMID: 27108799Created: 30 May 2017, 4:13 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 42, 616973
Mode of pathogenicity for gene: GNB1 was changed from to Other
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
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for GNB1 were set to 27108799
GNB1 was added to Cleftingpanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
GNB1 was created by LouiseD