Genomics England
GMS Panels
Panels
Genes and Entities

PSMB4

proteasome subunit beta 4
OMIM: 602177
PanelMode of inheritanceDetails
3 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome), Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591
Green
in Childhood interstitial lung disease
R-numbers: R462
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
proteasome-associated autoinflammatory syndrome 3, MONDO:0054699, ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591
Green
in Severe insulin resistance and lipodystrophy syndromes
R-numbers: R158
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591