Hereditary neuropathy

Gene: GNB4

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

• 23434117
• 27908631
• 28642160

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

Green List (high evidence)

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.

Green List (high evidence)

Two families, one denovo

Created: 29 Apr 2019, 9:20 a.m.

I don't know

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Comment on list classification: Await further families before include on green list

Created: 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.