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Intellectual disability

Gene: GNB1

Green List (high evidence)

GNB1 (G protein subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000078369
EnsemblGeneIds (GRCh37): ENSG00000078369
OMIM: 139380, Gene2Phenotype
GNB1 is in 5 panels

3 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : activating
Created: 27 Jul 2017, 6:22 p.m.

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

Publications

Mode of pathogenicity
Other

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to new publications providing evidence of more than 20 cases.
Created: 23 Jan 2017, 2:31 p.m.

Publications

Ellen Thomas (Genomics England Curator)

Comment on list classification: Consider promoting to green for next version - new evidence from multiple families in 1 paper in 2016.
Created: 11 Oct 2016, 6:27 p.m.
Comment on list classification: Consider promoting to green for next version - new evidence from multiple families in 1 paper in 2016.
Created: 11 Oct 2016, 6:27 p.m.
Comment on list classification: Consider promoting to green for next version - new evidence from multiple families in 1 paper in 2016.
Created: 11 Oct 2016, 6:27 p.m.
Comment on list classification: Consider promoting to green for next version - new evidence from multiple families in 1 paper in 2016.
Created: 11 Oct 2016, 6:27 p.m.
Comment on list classification: Consider promoting to green for next version - new evidence from multiple families in 1 paper in 2016.
Created: 11 Oct 2016, 6:27 p.m.
Comment on list classification: Consider promoting to green for next version - new evidence from multiple families in 1 paper in 2016.
Created: 11 Oct 2016, 6:27 p.m.
Comment on list classification: Consider promoting to green for next version - new evidence from multiple families in 1 paper in 2016.
Created: 11 Oct 2016, 6:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Other
Phenotypes
  • Intellectual disability
  • developmental delay
  • Global developmental delay
OMIM
139380
Clinvar variants
Variants in GNB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to GNB1.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

23 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Jan 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for GNB1 were set to Intellectual disability;developmental delay;Global developmental delay

23 Jan 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GNB1 were set to 27108799;28087732

23 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 Oct 2016, Gel status: 0

Added New Source

Ellen Thomas (Genomics England Curator)

GNB1 was added to Intellectual disabilitypanel. Sources: Other

11 Oct 2016, Gel status: 0

Created

Ellen Thomas (Genomics England Curator)

GNB1 was created by EllenThomas