Rare anaemia
Gene: GLRX5
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.Created: 18 Feb 2019, 2:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 4:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 3:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
616860 Pyridoxine refractory sideroblastic anaemia 3
Publications
Variants in this GENE are reported as part of current diagnostic practice
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GLRX5; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; PMID(s): none submittedCreated: 18 Feb 2019, 2:28 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GLRX5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive; PMID(s): none submittedCreated: 14 Feb 2019, 4:05 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GLRX5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616860 Pyridoxine refractory sideroblastic anaemia 3; PMID(s): 17485548; 25342667; 20364084Created: 8 Feb 2019, 3:49 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GLRX5; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; PMID(s): 17485548;20364084;25342667Created: 6 Feb 2019, 12:14 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 12:13 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 for gene: GLRX5
Source North West GLH was added to GLRX5.
Added phenotypes 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive for gene: GLRX5
Source Yorkshire and North East GLH was added to GLRX5.
Added phenotypes 616860 Pyridoxine refractory sideroblastic anaemia 3 for gene: GLRX5
Source London South GLH was added to GLRX5.
Source NHS GMS was added to GLRX5.
Source Expert Review Green was added to GLRX5. Mode of inheritance for gene GLRX5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 for gene: GLRX5 Publications for gene GLRX5 were changed from to 20364084; 25342667; 17485548 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: GLRX5 was added gene: GLRX5 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GLRX5 was set to