ITCH

itchy E3 ubiquitin protein ligase
OMIM: 606409, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red ITCH in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 1.74

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Autoimmune disease, multisystem, with facial dysmorphism 613385
  • primary ciliary dyskinesia

Green ITCH in Mendeliome


Version 1.4541

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
Tags
  • founder

Green ITCH in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 1.38

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245

    Amber ITCH in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.699

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385

    Green ITCH in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.204

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245
    Tags
    • founder

    Green ITCH in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)

    Red ITCH in Fetal anomalies


    Version 1.542

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385

    Green ITCH in Prepair 1000+


    Level 2: Screening
    Version 2.15

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)