Genes in panel

Neurodegenerative disorders - adult onset

Gene: ARHGEF28

Amber List (moderate evidence)

ARHGEF28 (Rho guanine nucleotide exchange factor 28)
EnsemblGeneIds (GRCh38): ENSG00000214944
EnsemblGeneIds (GRCh37): ENSG00000214944
OMIM: 612790, Gene2Phenotype
ARHGEF28 is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Individuals erported with variants in gene. No familial studies.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis

Publications

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review Amber
Phenotypes
  • Amyotrophic lateral sclerosis
OMIM
612790
Clinvar variants
Variants in ARHGEF28
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2019, Gel status: 2

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ARHGEF28 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Amyotrophic lateral sclerosis for gene: ARHGEF28 Publications for gene ARHGEF28 were changed from to 23286752; 24712971; 28709720; 27154192

23 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ARHGEF28.

23 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ARHGEF28.

23 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ARHGEF28 was added gene: ARHGEF28 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: ARHGEF28 was set to