Haem degradation and bilirubin metabolism defects

Gene: BLVRA

Amber List (moderate evidence)

BLVRA (biliverdin reductase A)
EnsemblGeneIds (GRCh38): ENSG00000106605
EnsemblGeneIds (GRCh37): ENSG00000106605
OMIM: 109750, Gene2Phenotype
BLVRA is in 2 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Disorders of haem degradation and bilirubin metabolism
  • hyperbiliverdinemia MONDO:0013595
OMIM
109750
Clinvar variants
Variants in BLVRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: BLVRA was added gene: BLVRA was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Amber Mode of inheritance for gene: BLVRA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: BLVRA were set to 19580635, 21278388 Phenotypes for gene: BLVRA were set to Disorders of haem degradation and bilirubin metabolism; hyperbiliverdinemia MONDO:0013595