NEFM

neurofilament medium
OMIM: 162250, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red NEFM in Mendeliome


Version 1.4902

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cerebellar ataxia, MONDO:0000437

Red NEFM in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.205

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    • Literature
    Phenotypes
    • Cerebellar ataxia, MONDO:0000437