Genes in panel

Hereditary neuropathy

Gene: ARHGEF10

Amber List (moderate evidence)

ARHGEF10 (Rho guanine nucleotide exchange factor 10)
EnsemblGeneIds (GRCh38): ENSG00000104728
EnsemblGeneIds (GRCh37): ENSG00000104728
OMIM: 608136, Gene2Phenotype
ARHGEF10 is in 3 panels

7 reviews

Alexander Rossor (UCL Institute of Neurology)

Red List (low evidence)

Only a single reported family
Created: 10 May 2019, 12:54 p.m.

Natalie Forrester (SWGLH - Bristol Genetics)

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

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

Louise Daugherty (Genomics England Curator)

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Only one published family
Created: 29 Apr 2019, 9:20 a.m.

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

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

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.
Created: 4 May 2016, 9:35 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert list
Phenotypes
  • ?Slowed nerve conduction velocity, AD, 608236
OMIM
608136
Clinvar variants
Variants in ARHGEF10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to ARHGEF10. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

29 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Slowed nerve conduction velocity, AD, 608236 for gene: ARHGEF10 Publications for gene ARHGEF10 were changed from to 14508709

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ARHGEF10.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ARHGEF10.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ARHGEF10. Rating Changed from Green List (high evidence) to Green List (high evidence)

4 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ARHGEF10 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ARHGEF10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ARHGEF10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ARHGEF10 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARHGEF10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ARHGEF10 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN