1. Genes and Genomic Entities
  2. PSMC1

PSMC1

proteasome 26S subunit, ATPase 1
OMIM: 602706, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red PSMC1 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • PSMC1-related neurodevelopmental disorder