Hereditary Neuropathy_CMT - isolated
Gene: ARHGEF10EnsemblGeneIds (GRCh38): ENSG00000104728
EnsemblGeneIds (GRCh37): ENSG00000104728
OMIM: 608136, Gene2Phenotype
ARHGEF10 is in 2 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
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)
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
- Phenotypes
-
- ?Slowed nerve conduction velocity, AD, 608236
- HMSN
- OMIM
- 608136
- Clinvar variants
- Variants in ARHGEF10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arhgef10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arhgef10 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ARHGEF10 was added gene: ARHGEF10 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ARHGEF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARHGEF10 were set to 14508709; 21719701; 25025039; 25275565; 25091364 Phenotypes for gene: ARHGEF10 were set to ?Slowed nerve conduction velocity, AD, 608236; HMSN