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IBMDx study

Gene: GLRX5

Green List (high evidence)
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: Imported from Bone Marrow Failure panel version 0.94

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860
OMIM
609588
Clinvar variants
Variants in GLRX5
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLRX5 was added gene: GLRX5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: GLRX5 was set to Unknown Phenotypes for gene: GLRX5 were set to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860