1. Panels
  2. Motor Neurone Disease
  3. ERBB4
Regions in panel
Prev Next

Motor Neurone Disease

Gene: ERBB4

Amber List (moderate evidence)
ERBB4 (erb-b2 receptor tyrosine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000178568
EnsemblGeneIds (GRCh37): ENSG00000178568
OMIM: 600543, Gene2Phenotype
ERBB4 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ALS: at least 4 families reported with SNVs.

ID: intragenic deletions in 3 families, some inherited.
Created: 4 Oct 2021, 7:02 a.m. | Last Modified: 4 Oct 2021, 7:02 a.m.
Panel Version: 0.9309

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 19, MIM# MIM#615515; Intellectual disability

Publications

Created: 4 Oct 2021, 7:02 a.m.
Last Modified: 4 Oct 2021, 7:02 a.m.
Panel version: Imported from Mendeliome panel version 0.9309

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorder GCEP - 30/09/2021
Created: 22 Jun 2023, 12:30 a.m. | Last Modified: 22 Jun 2023, 12:30 a.m.
Panel Version: 0.177
At least 4 cases with ALS
Sources: Expert list
Created: 31 Mar 2020, 7:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 19 MIM#615515

Publications

Created: 31 Mar 2020, 7:20 a.m.

Panel version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 19 MIM#615515
OMIM
600543
Clinvar variants
Variants in ERBB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: erbb4 has been classified as Green List (High Evidence).

31 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: erbb4 has been classified as Green List (High Evidence).

31 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ERBB4 was added gene: ERBB4 was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ERBB4 were set to 24119685; 28889094 Phenotypes for gene: ERBB4 were set to Amyotrophic lateral sclerosis 19 MIM#615515 Review for gene: ERBB4 was set to GREEN