1. Genes and Genomic Entities
  2. GLRX5

GLRX5

glutaredoxin 5
OMIM: 609588, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green GLRX5 in White matter disorders and cerebral calcification - narrow panel


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859
    Green GLRX5 in Pyruvate dehydrogenase (PDH) deficiency


    Version 1.36
    Latest signed off version: v1.2 (17 Feb 2020)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA OMIM:616859
    • spasticity-ataxia-gait anomalies syndrome MONDO:0014803
    • ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY OMIM:616860
    • sideroblastic anemia 3 MONDO:0014804
    Green GLRX5 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.118

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
    Green GLRX5 in Rare anaemia


    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
    • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
    • 616860 Pyridoxine refractory sideroblastic anaemia 3
    Green GLRX5 in Childhood onset hereditary spastic paraplegia


    Version 4.43
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859
    Green GLRX5 in Iron metabolism disorders - NOT common HFE mutations


    Version 2.6
    Latest signed off version: v2.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London South GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Anemia, sideroblastic, 3, pyridoxine-refractory OMIM:616860
    Green GLRX5 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Disorders of iron homeostasis
    • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
    Green GLRX5 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
    • Disorders of iron homeostasis
    Green GLRX5 in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859
    • ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
    Green GLRX5 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review 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
    Red GLRX5 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green GLRX5 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spasticity, childhood-onset, with hyperglycinemia, 616859
    • Anemia, sideroblastic, 3, pyridoxine-refractory, 616860