Neurodegenerative disorders - adult onsetGene: ERBB4
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
Two mutations in three kindred described including one de novo variant. No further familial cases reported. No additional patients identified using Sheffield panel.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Amyotrophic lateral sclerosis 19, 615515
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to ERBB4. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Publications for gene ERBB4 were changed from to 24119685
Source NHS GMS was added to ERBB4.
Source Yorkshire and North East GLH was added to ERBB4.
Rebecca Foulger: Gene awaiting curator evaluati
gene: ERBB4 was added gene: ERBB4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ERBB4 were set to Amyotrophic lateral sclerosis 19, 615515