PanelApp (test)
  1. Genes and Genomic Entities
  2. OTULIN

OTULIN

OTU deubiquitinase with linear linkage specificity
OMIM: 615712, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green OTULIN in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.121

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099

    Green OTULIN in Lipodystrophy_Lipoatrophy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.17

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099

    Green OTULIN in Mendeliome


    Version 1.1902

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
    • Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986

    Green OTULIN in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.29

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986

    Green OTULIN in Systemic Autoinflammatory Disease_Periodic Fever


    Level 2: Immunological disorders
    Version 1.47

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099

    Green OTULIN in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
    Tags
    • treatable
    • immunological