Genomics England
GMS Panels
Panels
Genes and Entities

PSMC5

proteasome 26S subunit, ATPase 5
OMIM: 601681
PanelMode of inheritanceDetails
1 panel
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PSMC5-related developmental disorder (monoallelic)