PanelApp (stage)
  1. Genes and Genomic Entities
  2. PFN1

PFN1

profilin 1
OMIM: 176610, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PFN1 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 Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PFN1 in Mendeliome


    Version 1.1891

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 18 (MIM# 614808)
    • Paget’s disease of bone