Genomics England
GMS Panels
Panels
Genes and Entities

OTULIN

OTU deubiquitinase with linear linkage specificity
OMIM: 615712
PanelMode of inheritanceDetails
4 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 2.0
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Otulin-related auto inflammatory syndrome
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection}, OMIM:619986, Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Green
in Severe insulin resistance and lipodystrophy syndromes
R-numbers: R158
Signed-off version 4.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099