Genomics England
GMS Panels
Panels
Genes and Entities

ERBB4

erb-b2 receptor tyrosine kinase 4
OMIM: 600543
PanelMode of inheritanceDetails
2 panels
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability MONDO:0001071
Green
in Neurodegenerative disorders - adult onset
R-numbers: R58
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amyotrophic lateral sclerosis 19 OMIM:615515, amyotrophic lateral sclerosis type 19 MONDO:0014223