PSMB8

proteasome subunit beta 8
OMIM: 177046
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NAKAJO SYNDROME 256040
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammation, lipodystrophy, and dermatosis syndrome 256040, Other autoinflammatory diseases with known genetic defect, CANDLE syndrome, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE), Contractures, panniculitis, ICC, fevers, Autoinflammatory Disorders