DBR1

debranching RNA lariats 1
OMIM: 607024, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green DBR1 in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • DBR1 deficiency
  • Defects in intrinsic and innate immunity
  • HSE of the brainstem. Other viral infections of the brainstem
Amber DBR1 in Ichthyosis and erythrokeratoderma


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ichthyosis, MONDO:0019269
Tags
  • founder-effect
Green DBR1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • DBR1 deficiency
  • Defects in intrinsic and innate immunity
  • HSE of the brainstem. Other viral infections of the brainstem