GLRX5

glutaredoxin 5
OMIM: 609588, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green GLRX5 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.19 Latest signed off version: v7.0 (30 Apr 2025) 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 Level 2: Mitochondrial Version 1.38 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 1.123	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 Level 2: Haematology Version 3.19 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 Level 2: Neurology Version 8.42 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Haematology Version 3.4 Latest signed off version: v3.0 (30 Apr 2025)	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 1.643	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 Level 2: Metabolic Version 8.100 Latest signed off version: v8.0 (30 Apr 2025) 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 Level 2: Mitochondrial Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	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 2: Mitochondrial Version 9.46 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH