Adult onset neurodegenerative disorder
Gene: ERBB4
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 4:12 p.m. | Last Modified: 10 Mar 2022, 4:12 p.m.
Panel Version: 2.263
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least three variants reported in three unrelated cases of Amyotrophic lateral sclerosis 19.Created: 4 Mar 2021, 12:51 p.m. | Last Modified: 4 Mar 2021, 12:51 p.m.
Panel Version: 2.42
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 4 Mar 2021, 12:49 p.m. | Last Modified: 4 Mar 2021, 12:49 p.m.
Panel Version: 2.42
Further cases reported as part of this cohort.Created: 27 Sep 2020, 11:22 p.m. | Last Modified: 27 Sep 2020, 11:22 p.m.
Panel Version: 2.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophic lateral sclerosis 19, 615515
Publications
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 AmberCreated: 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
Phenotypes
Amyotrophic lateral sclerosis 19, 615515
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: ERBB4.
Source Expert Review Green was added to ERBB4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: ERBB4.
Gene: erbb4 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ERBB4 were changed from Amyotrophic lateral sclerosis 19, 615515 to Amyotrophic lateral sclerosis 19 OMIM:615515; amyotrophic lateral sclerosis type 19 MONDO:0014223
Publications for gene: ERBB4 were set to 24119685
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