Genomics England

GLRX5

glutaredoxin 5

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859
Green in Iron metabolism disorders - NOT common HFE mutations R-numbers: R96 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Anemia, sideroblastic, 3, pyridoxine-refractory OMIM:616860
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	BIALLELIC, autosomal or pseudoautosomal	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 in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of iron homeostasis, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
Green in Rare anaemia R-numbers: R92 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950, 616860 Pyridoxine refractory sideroblastic anaemia 3
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spasticity, childhood-onset, with hyperglycinemia, OMIM:616859