ERBB4

erb-b2 receptor tyrosine kinase 4
OMIM: 600543, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ERBB4 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.27

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 19 MIM#615515

    Amber ERBB4 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 19, MIM# MIM#615515
    • Intellectual disability MONDO:0001071

    Amber ERBB4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability
    Tags
    • SV/CNV