Hereditary neuropathy

Gene: ARHGEF10

Red List (low evidence)

Not enough evidence

Created: 24 Nov 2022, 6:23 p.m. | Last Modified: 24 Nov 2022, 6:23 p.m.

Panel Version: 1.457

Red List (low evidence)

Only a single reported family

Created: 10 May 2019, 12:54 p.m.

Green List (high evidence)

In Bristol lots of C3s, no strong candidates. PMID: 14508709 Verhoeven (2003) Functional studies show that the Thr332Ile mutant stimulates increased actomyosin contraction, regulating cell morphology in Schwann cells. Most others on HGMD are exome papers.

Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Slowed nerve conduction velocity, AD, 608236

Publications

• 14508709

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

I don't know

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.

Red List (low evidence)

Only one published family

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

Green List (high evidence)

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

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.

Created: 4 May 2016, 9:35 a.m.