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Hereditary neuropathy NOT PMP22 copy number

Gene: GNB4

Green List (high 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)

Green List (high evidence)

Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). New evidence/re-evaluation of evidence - promotion to Green / CMT - new evidence Agree promote to Green
Created: 6 Dec 2019, 2:32 p.m. | Last Modified: 6 Dec 2019, 2:32 p.m.
Panel Version: 0.36
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 1:20 p.m. | Last Modified: 6 Dec 2019, 1:20 p.m.
Panel Version: 0.13
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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate F, 615185
OMIM
610863
Clinvar variants
Variants in GNB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gnb4 has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GNB4 was added gene: GNB4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: GNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB4 were set to 27908631; 23434117; 28642160 Phenotypes for gene: GNB4 were set to Charcot Marie Tooth disease, dominant intermediate F, 615185