BLVRA:Ensemblv90

biliverdin reductase A
OMIM: 109750, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber BLVRA in Mendeliome


Version 1.3802

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperbiliverdinaemia , MIM#614156

Amber BLVRA in Haem degradation and bilirubin metabolism defects


Level 2: Metabolic disorders
Version 0.19

Component of the following Super Panels:

  • Liverome Superpanel
  • Metabolic Disorders Superpanel
  • 0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Disorders of haem degradation and bilirubin metabolism
    • hyperbiliverdinemia MONDO:0013595

    Amber BLVRA in Haem degradation and bilirubin metabolism defects


    Level 2: Metabolic disorders
    Version 1.0

    0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Disorders of haem degradation and bilirubin metabolism
    • hyperbiliverdinemia MONDO:0013595