Cytopenias and congenital anaemias
Gene: GLRX5EnsemblGeneIds (GRCh38): ENSG00000182512
EnsemblGeneIds (GRCh37): ENSG00000182512
OMIM: 609588, Gene2Phenotype
GLRX5 is in 11 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 3 variants reported in 2 cases, together with supporting in vitro evidence.Created: 9 Mar 2017, 3:23 p.m.
Comment on phenotypes: Variants also associated with Spasticity, childhood-onset, with hyperglycinemia 616859Created: 7 Mar 2017, 1:40 p.m.
Phenotypes
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
- OMIM
- 609588
- Clinvar variants
- Variants in GLRX5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Rare anaemia
- Iron metabolism disorders - NOT common HFE mutations
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for GLRX5 were set to 17485548; 20364084; 25342667
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GLRX5 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for GLRX5 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Louise Daugherty (Genomics England Curator)GLRX5 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Louise Daugherty (Genomics England Curator)GLRX5 was created by LouiseD