Hereditary neuropathy
Gene: ARHGEF10
Not enough evidenceCreated: 24 Nov 2022, 6:23 p.m. | Last Modified: 24 Nov 2022, 6:23 p.m.
Panel Version: 1.457
Only a single reported familyCreated: 10 May 2019, 12:54 p.m.
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
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.
Only one published familyCreated: 29 Apr 2019, 9:20 a.m.
Variants in this GENE are reported as part of current diagnostic practice
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.
Source Expert Review Amber was added to ARHGEF10. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added phenotypes ?Slowed nerve conduction velocity, AD, 608236 for gene: ARHGEF10 Publications for gene ARHGEF10 were changed from to 14508709
Source South West GLH was added to ARHGEF10.
Source NHS GMS was added to ARHGEF10.
Source London North GLH was added to ARHGEF10. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ARHGEF10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene ARHGEF10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene ARHGEF10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene ARHGEF10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ARHGEF10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN
ARHGEF10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN