PSMB8

proteasome subunit beta 8
OMIM: 177046
PanelMode of inheritanceDetails
3 panels
R-numbers: R413
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NAKAJO SYNDROME 256040
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040, Autoinflammation, lipodystrophy, and dermatosis syndrome, Contractures, panniculitis, ICC, fevers, Autoinflammatory Disorders, CANDLE syndrome