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Hereditary neuropathy NOT PMP22 copy number

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

8 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Single family reported in 2003 with slowed nerve conduction velocities but no other clinical findings. Two others in CMT cohorts, plus functional data.
Created: 31 Mar 2020, 7:18 a.m. | Last Modified: 31 Mar 2020, 7:18 a.m.
Panel Version: 1.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Slowed nerve conduction velocity, MIM# 608236

Publications

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

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Re-evaluation of evidence - demotion / One published family plus functional evidence (NB. Bristol review although Green acknowledges limited evidence) - demote
Created: 6 Dec 2019, 2:17 p.m. | Last Modified: 6 Dec 2019, 2:17 p.m.
Panel Version: 0.35
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 1:14 p.m. | Last Modified: 6 Dec 2019, 1:16 p.m.
Panel Version: 0.7
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
  • Expert Review Amber
  • South West GLH
  • UKGTN
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • ?Slowed nerve conduction velocity, AD, 608236
OMIM
608136
Clinvar variants
Variants in ARHGEF10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: arhgef10 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ARHGEF10 was added gene: ARHGEF10 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: ARHGEF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGEF10 were set to 14508709 Phenotypes for gene: ARHGEF10 were set to ?Slowed nerve conduction velocity, AD, 608236