Possible mitochondrial disorder - nuclear genes
Gene: GLRX5EnsemblGeneIds (GRCh38): ENSG00000182512
EnsemblGeneIds (GRCh37): ENSG00000182512
OMIM: 609588, Gene2Phenotype
GLRX5 is in 11 panels
4 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on OMIM.Created: 12 Feb 2016, 5:14 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.Created: 12 Feb 2016, 5:14 p.m.
Shamima Rahman (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859
- ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
- OMIM
- 609588
- Clinvar variants
- Variants in GLRX5
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Rare anaemia
- Possible mitochondrial disorder - nuclear genes
- Cytopenias and congenital anaemias
- Pyruvate dehydrogenase (PDH) deficiency
- Undiagnosed metabolic disorders
- Iron metabolism disorders - NOT common HFE mutations
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GLRX5 was added gene: GLRX5 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLRX5 were set to SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860