Bone Marrow Failure
Gene: GLRX5

GLRX5 (glutaredoxin 5)
EnsemblGeneIds (GRCh38): ENSG00000182512
EnsemblGeneIds (GRCh37): ENSG00000182512
OMIM: 609588, Gene2Phenotype
GLRX5 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anemia in adulthood. Affected individuals show signs of systemic iron overload, and iron chelation therapy may be of clinical benefit. At least three unrelated individuals reported.
Created: 13 Sep 2020, 11:54 p.m. | Last Modified: 13 Sep 2020, 11:54 p.m.

Panel Version: 0.94

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860

Publications

Created: 13 Sep 2020, 11:54 p.m.
Last Modified: 13 Sep 2020, 11:54 p.m.
Panel version: 0.94

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860

OMIM

609588

Clinvar variants

Variants in GLRX5

Penetrance

None

Publications

Panels with this gene