OTULIN

OTU deubiquitinase with linear linkage specificity
OMIM: 615712, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green OTULIN in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.124

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 1.18

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

    Green OTULIN in Mendeliome


    Version 1.2374

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030
    • Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099
    • Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986

    Green OTULIN in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.33

    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 Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.3

    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, autosomal dominant, MIM# 621030
    • Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099

    No list OTULIN in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature

    Green OTULIN in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

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