PSMF1

proteasome inhibitor subunit 1
Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green PSMF1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Tags
  • gene-checked