PanelApp (staging)
  1. Genes and Genomic Entities
  2. GLRX5

GLRX5

glutaredoxin 5
OMIM: 609588, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green GLRX5 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.112

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860

    Green GLRX5 in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anemia, sideroblastic, 3, pyridoxine-refractory
    • Spasticity, childhood-onset, with hyperglycinemia

    Green GLRX5 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.969

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green

    Green GLRX5 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spasticity, childhood-onset, with hyperglycinemia 616859

    Green GLRX5 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.86

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spasticity, childhood-onset, with hyperglycinemia 616859

    Green GLRX5 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.29

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • North West GLH
    • London South GLH
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860

    Green GLRX5 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.45

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS Genomic Medicine Service
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • 616860 Anemia, sideroblastic, 3, pyridoxine-refractory
    • Sideroblastic anaemia - increased serum ferritin

    Green GLRX5 in IBMDx study


    Version 0.33

    		1 review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860