Hereditary neuropathy
Gene: GNB4
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 familiesCreated: 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
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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.
Two families, one denovoCreated: 29 Apr 2019, 9:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Await further families before include on green listCreated: 8 Jul 2016, 4 a.m.
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.
Source Expert Review Green was added to GNB4. Rating Changed from Red List (low evidence) to Green List (high evidence)
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
Source South West GLH was added to GNB4.
Source NHS GMS was added to GNB4.
Source London North GLH was added to GNB4.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for GNB4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Amber List (Moderate Evidence).
Publications for GNB4 were set to PMID: 23434117 - one heterozygous variant reported in affected first cousins, another variant identified in one indidvidual with CMT.
Publications for GNB4 were set to PMID: 23434117
GNB4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen