PFN1

profilin 1
OMIM: 176610, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PFN1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 3 reviews 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 2.50

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Amyotrophic lateral sclerosis 18 (MIM# 614808)
    • Paget disease of bone 7, early-onset, MIM# 621600

    Amber PFN1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Paget disease of bone 7, early-onset, MIM# 621600