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Mendeliome

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 2 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: ClinGen gene-disease clinical validity classification is limited for this gene.
Created: 24 Jun 2021, 3:18 a.m. | Last Modified: 24 Jun 2021, 3:18 a.m.
Panel Version: 0.8102
One 4 generation family segregating Thr357Ile with slowed NCVs without the clinical phenotype of HMSN. Variant demonstrated gain of function effects in in vitro functional assays. Another missense (Arg363Thr - VUS) reported in a single CMT2 case. Null mouse model demonstrates an autism spectrum disorder-like phenotype. A 10 bp deletion altering a splice site (causing a frameshift) causes inherited polyneuropathy in Leonberger dogs.
Created: 24 Jun 2021, 2:19 a.m. | Last Modified: 24 Jun 2021, 2:19 a.m.
Panel Version: 1.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Slowed nerve conduction velocity, AD MIM#608236

Publications

Mode of pathogenicity
Other

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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, 7:15 a.m. | Last Modified: 31 Mar 2020, 7:17 a.m.
Panel Version: 0.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Slowed nerve conduction velocity, MIM# 608236

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Slowed nerve conduction velocity, MIM# 608236
OMIM
608136
Clinvar variants
Variants in ARHGEF10
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

6 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARHGEF10 were changed from to Slowed nerve conduction velocity, MIM# 608236

6 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARHGEF10 were set to

6 Jan 2022, Gel status: 2

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: ARHGEF10 was changed from to Other

6 Jan 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ARHGEF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

24 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARHGEF10 was added gene: ARHGEF10 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARHGEF10 was set to Unknown