PSMB9

proteasome subunit beta 9
OMIM: 177045
PanelMode of inheritanceDetails
2 panels
R-numbers: R413
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome), Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591
R-numbers: R462
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
proteasome-associated autoinflammatory syndrome 6, MONDO:0968983, Proteasome-associated autoinflammatory syndrome 6, OMIM:620796