Genes in panel

Hereditary neuropathy

Gene: GNB4

Red List (low evidence)

GNB4 (G protein subunit beta 4)
EnsemblGeneIds (GRCh38): ENSG00000114450
EnsemblGeneIds (GRCh37): ENSG00000114450
OMIM: 610863, Gene2Phenotype
GNB4 is in 2 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

several reports now. PMID: 23434117 - one heterozygous variant reported in affected first cousins, another variant identified in one indidvidual with CMT. PMID:27908631 - different hetero missense variant found de novo in index. PMID:28642160 - another different missense variant in 2 Japanease families
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot Marie Tooth disease, dominant intermediate F, 615185

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Two families, one denovo
Created: 29 Apr 2019, 9:20 a.m.

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

I don't know

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Richard Scott (Genomics England Curator)

Comment on list classification: Await further families before include on green list
Created: 8 Jul 2016, 4 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to amber. Two green reviews, and one unsure. From a literature search, there does not seem to be more than 3 unrelated cases/families reported so far.
Created: 4 May 2016, 11:31 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate F, 615185
  • Charcot Marie Tooth disease, dominant intermediate F, 615185
OMIM
610863
Clinvar variants
Variants in GNB4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot Marie Tooth disease, dominant intermediate F, 615185 for gene: GNB4 Publications for gene GNB4 were changed from PMID: 23434117 - one heterozygous variant reported in affected first cousins, another variant identified in one indidvidual with CMT. to 28642160; 27908631; 23434117

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to GNB4.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GNB4.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to GNB4.

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 May 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GNB4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

4 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GNB4 were set to PMID: 23434117 - one heterozygous variant reported in affected first cousins, another variant identified in one indidvidual with CMT.

4 May 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GNB4 were set to PMID: 23434117

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GNB4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen