This Panel is marked as Internal
Congenital anaemias
Gene: GLRX5
GLRX5 (glutaredoxin 5)
EnsemblGeneIds (GRCh38): ENSG00000182512
EnsemblGeneIds (GRCh37): ENSG00000182512
OMIM: 609588, Gene2Phenotype
GLRX5 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000182512
EnsemblGeneIds (GRCh37): ENSG00000182512
OMIM: 609588, Gene2Phenotype
GLRX5 is in 11 panels
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Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
- OMIM
- 609588
- Clinvar variants
- Variants in GLRX5
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Cytopenias and congenital anaemias
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Rare anaemia
- Iron metabolism disorders - NOT common HFE mutations
History Filter Activity
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GLRX5 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
28 Apr 2015, Gel status: 1
Added New Source
GEL ()GLRX5 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen