Rare anaemia
Gene: GSS
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
Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency, 231900; Glutathione synthetase deficiency, 266130
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
231900 Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency; 266130 Glutathione synthetase deficiency
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
266130 Glutathione synthetase deficiency
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: GSS; 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: Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency, 231900;Glutathione synthetase deficiency, 266130; 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: GSS; 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: 231900 Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency; 266130 Glutathione synthetase deficiency; 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: GSS; 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: 266130 Glutathione synthetase deficiency; PMID(s): 8896573Created: 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: GSS; 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: Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency, 231900;Glutathione synthetase deficiency, 266130; PMID(s): 10450861;16435214;8896573;11167850Created: 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 Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency, 231900; Enzyme Disorder for gene: GSS
Source North West GLH was added to GSS.
Added phenotypes Hemolytic anemia due to glutathione synthetase deficiency; 266130 Glutathione synthetase deficiency; 231900 Enzyme Disorder for gene: GSS
Source Yorkshire and North East GLH was added to GSS.
Added phenotypes 266130 Glutathione synthetase deficiency for gene: GSS Publications for gene GSS were changed from 16435214; 8896573; 10450861; 11167850 to 8896573
Source London South GLH was added to GSS.
Source NHS GMS was added to GSS.
Source Expert Review Green was added to GSS. Mode of inheritance for gene GSS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency, 231900; Enzyme Disorder for gene: GSS Publications for gene GSS were changed from to 16435214; 8896573; 10450861; 11167850 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: GSS was added gene: GSS was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GSS was set to