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Mendeliome

Gene: BLVRA

Amber List (moderate evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Hyperbiliverdinemia can manifest as green jaundice, which is a green discoloration of the skin, urine, serum, and other bodily fluids, due to increased biliverdin resulting from inefficient conversion to bilirubin. Although rarely reported, affected individuals appear to have symptoms only in the context of obstructive cholestasis and/or liver failure. In some cases, green jaundice can resolve after resolution of obstructive cholestasis.

Single family with mono-allelic, and single family with bi-allelic variants reported, good biological candidate.
Created: 1 May 2022, 8 a.m. | Last Modified: 1 May 2022, 8 a.m.
Panel Version: 0.13518

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperbiliverdinaemia , MIM#614156

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperbiliverdinaemia , MIM#614156
OMIM
109750
Clinvar variants
Variants in BLVRA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: blvra has been classified as Amber List (Moderate Evidence).

1 May 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BLVRA were changed from to Hyperbiliverdinaemia , MIM#614156

1 May 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BLVRA were set to

1 May 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BLVRA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: blvra has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BLVRA was added gene: BLVRA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BLVRA was set to Unknown