Rare anaemia
Gene: GCLC
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 gamma-glutamylcysteine synthetase deficiency, 230450; Glutamate-cysteine ligase deficiency
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
230450 Glutamate-cysteine ligase 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
230450 Hemolytic anemia due to gamma-glutamylcysteine 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: GCLC; 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 gamma-glutamylcysteine synthetase deficiency, 230450;Glutamate-cysteine ligase deficiency; 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: GCLC; 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: 230450 Glutamate-cysteine ligase 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: GCLC; 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: 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency; PMID(s): 10515893Created: 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: GCLC; 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 gamma-glutamylcysteine synthetase deficiency, 230450;Glutamate-cysteine ligase deficiency; PMID(s): 10515893;10733484;12663448;18024385;8634459Created: 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 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Glutamate-cysteine ligase deficiency; Enzyme Disorder for gene: GCLC
Source North West GLH was added to GCLC.
Added phenotypes 230450 Glutamate-cysteine ligase deficiency for gene: GCLC
Source Yorkshire and North East GLH was added to GCLC.
Added phenotypes 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency for gene: GCLC Publications for gene GCLC were changed from 8634459; 10515893; 12663448; 18024385; 10733484 to 10515893
Source London South GLH was added to GCLC.
Source NHS GMS was added to GCLC.
Source Expert Review Green was added to GCLC. Mode of inheritance for gene GCLC was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Glutamate-cysteine ligase deficiency; Enzyme Disorder for gene: GCLC Publications for gene GCLC were changed from to 8634459; 10515893; 12663448; 18024385; 10733484 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: GCLC was added gene: GCLC was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GCLC was set to