Genomics England
GMS Panels
Panels
Genes and Entities

PSMB9

proteasome subunit beta 9
OMIM: 177045
PanelMode of inheritanceDetails
1 panel
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 1.11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome), Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591