OTULIN

OTU deubiquitinase with linear linkage specificity
OMIM: 615712
PanelMode of inheritanceDetails
3 panels
R-numbers: R413
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Otulin-related auto inflammatory syndrome
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099, Fever, diarrhoea, dermatitis, Autoinflammatory Disorders