Genomics England
GMS Panels
Panels
Genes and Entities

PSMF1

proteasome inhibitor subunit 1
PanelMode of inheritanceDetails
1 panel
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related