Amyotrophic lateral sclerosis/motor neuron disease
Gene: ERBB4EnsemblGeneIds (GRCh38): ENSG00000178568
EnsemblGeneIds (GRCh37): ENSG00000178568
OMIM: 600543, Gene2Phenotype
ERBB4 is in 4 panels
3 reviews
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
24119685 describes one monoallelic mutation in 3 unrelated families from japan and canada (segregation shown for 2). the evidence is still limited that this is a ALS/MND gene.
Created: 18 Dec 2016, 9:11 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alice Gardham (Genomics England)
Only reported in 3 families. Not recognised on G2P. Orphanet -no diagnostic testing offered in Europe. Not referenced in ALS GeneReviewCreated: 24 Nov 2016, 1:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophic lateral sclerosis 19 615515
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: No expert reviews. Three family/case reports in OMIM for two different variants.Created: 3 Nov 2016, 6:55 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Amyotrophic lateral sclerosis 19, 615515
- OMIM
- 600543
- Clinvar variants
- Variants in ERBB4
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 19th December 2016 following external review and internal curation
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ERBB4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ERBB4 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)ERBB4 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Radboud University Medical Center, Nijmegen