Genomics England
GMS Panels
Panels
Genes and Entities

ITCH

itchy E3 ubiquitin protein ligase
OMIM: 606409
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM 613385
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoimmune disease, multisystem, with facial dysmorphism, 613385, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), Syndromic multisystem autoimmune disease due to Itch deficiency, Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features, Diseases of Immune Dysregulation