Genomics England
GMS Panels
Panels
Genes and Entities

PFN1

profilin 1
OMIM: 176610
PanelMode of inheritanceDetails
1 panel
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 4.34
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amyotrophic lateral sclerosis 18, OMIM:614808