GLRX5

PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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
R-numbers: R96
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
616860 Anemia, sideroblastic, 3, pyridoxine-refractory, Sideroblastic anaemia - increased serum ferritin
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of iron homeostasis, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
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 1.2
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