Mitochondrial disorders
Gene: GLRX5EnsemblGeneIds (GRCh38): ENSG00000182512
EnsemblGeneIds (GRCh37): ENSG00000182512
OMIM: 609588, Gene2Phenotype
GLRX5 is in 11 panels
3 reviews
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
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Disorders of iron homeostasis
- 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
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to GLRX5. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GLRX5 were set to Disorders of iron homeostasis; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GLRX5 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)GLRX5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)GLRX5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)GLRX5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen