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  3. ERBB4
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Adult onset neurodegenerative disorder

Gene: ERBB4

Green List (high evidence)
ERBB4 (erb-b2 receptor tyrosine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000178568
EnsemblGeneIds (GRCh37): ENSG00000178568
OMIM: 600543, Gene2Phenotype
ERBB4 is in 4 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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
Created: 4 Mar 2021, 12:49 p.m.
Last Modified: 4 Mar 2021, 12:49 p.m.
Panel version: 2.263

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 27 Sep 2020, 11:22 p.m.
Last Modified: 27 Sep 2020, 11:22 p.m.
Panel version: 2.16

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
Created: 23 Jul 2019, 3:51 p.m.
Last Modified: 23 Jul 2019, 3:51 p.m.
Panel version: 1.106

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

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

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
Phenotypes
  • Amyotrophic lateral sclerosis 19 OMIM:615515
  • amyotrophic lateral sclerosis type 19 MONDO:0014223
OMIM
600543
Clinvar variants
Variants in ERBB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: ERBB4.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to ERBB4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Mar 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: ERBB4.

4 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: erbb4 has been classified as Amber List (Moderate Evidence).

4 Mar 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

4 Mar 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ERBB4 were set to 24119685

20 Sep 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to ERBB4. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

23 Jul 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ERBB4 were changed from to 24119685

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ERBB4.

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ERBB4.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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