Amyotrophic lateral sclerosis/motor neuron disease
Gene: ERBB4
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
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
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.
Promoted to version 1 on 19th December 2016 following external review and internal curation
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for ERBB4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Amber List (Moderate Evidence).
ERBB4 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
ERBB4 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Radboud University Medical Center, Nijmegen