PFN1

profilin 1
OMIM: 176610, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PFN1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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 2.0

3 reviews 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