DBR1

debranching RNA lariats 1
OMIM: 607024, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber DBR1 in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510
Tags
  • founder

Green DBR1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441
  • Viral infections of the brainstem
  • Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510

Green DBR1 in Defects of intrinsic and innate immunity


Level 2: Immunological disorders
Version 1.20

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334

    Green DBR1 in Susceptibility to Viral Infections


    Level 2: Immunological disorders
    Version 0.131

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441
    • Viral infections of the brainstem

    Amber DBR1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Ichthyosis (MONDO#0019269), DBR1-related
    Tags
    • founder

    No list DBR1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list