PanelApp (test)
  1. Genes and Genomic Entities
  2. NEFH

NEFH

neurofilament heavy
OMIM: 162230, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red NEFH in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

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 Red
    • ClinGen
    Phenotypes
    • amyotrophic lateral sclerosis MONDO:0004976

    Green NEFH in Mendeliome


    Version 1.1902

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924

    Green NEFH in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
    • HMSN