Neurodegenerative disorders - adult onsetGene: ARHGEF28
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
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
Amyotrophic lateral sclerosis
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ARHGEF28 were changed from Amyotrophic lateral sclerosis to Amyotrophic lateral sclerosis, MONDO:0004976
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
Source NHS GMS was added to ARHGEF28.
Source Yorkshire and North East GLH was added to ARHGEF28.
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