Genomics England
GMS Panels
Panels
Genes and Entities

PSMB8

proteasome subunit beta 8
OMIM: 177046
PanelMode of inheritanceDetails
3 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 1.11
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 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NAKAJO SYNDROME 256040
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.123
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