OTULIN

OTU deubiquitinase with linear linkage specificity
OMIM: 615712
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
Otulin-related auto inflammatory syndrome
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammation, panniculitis, and dermatosis syndrome, 617099, Fever, diarrhea , dermatitis, Autoinflammatory Disorders