OTULIN

OTU deubiquitinase with linear linkage specificity
OMIM: 615712, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green OTULIN in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) (617099)
  • Otulin-related autoinflammatry syndrome (ORAS)

Green OTULIN in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.27

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, 617099
  • AIPDS

Green OTULIN in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.61

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list

Green OTULIN in COVID-19 research


Level 2: Viral research
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, 617099
  • Fever, diarrhea , dermatitis
  • Autoinflammatory Disorders

Green OTULIN in Primary immunodeficiency


Version 2.480
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, 617099
  • Fever, diarrhea , dermatitis
  • Autoinflammatory Disorders

Amber OTULIN in Lipodystrophy - childhood onset


Version 2.16
Latest signed off version: v2.4 (19 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Tags
  • Q2_21_rating

Red OTULIN in Fetal anomalies


Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Otulin-related auto inflammatory syndrome

Green OTULIN in DDG2P


Version 2.50
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Otulin-related auto inflammatory syndrome

    Red OTULIN in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Otulin-related auto inflammatory syndrome (ORAS)

    Green OTULIN in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autoinflammation, panniculitis, and dermatosis syndrome, 617099