Rare anaemia

Gene: GSR

Green List (high evidence)

GSR (glutathione-disulfide reductase)
EnsemblGeneIds (GRCh38): ENSG00000104687
EnsemblGeneIds (GRCh37): ENSG00000104687
OMIM: 138300, Gene2Phenotype
GSR is in 2 panels

4 reviews

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

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
Unknown

Phenotypes
NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

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
Unknown

Phenotypes
Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
Created: 22 Jul 2019, 3:39 p.m. | Last Modified: 22 Jul 2019, 3:39 p.m.
Panel Version: 0.65
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: GSR; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; PMID(s): none submitted
Created: 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: GSR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: N/A Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; PMID(s): none submitted
Created: 14 Feb 2019, 4:05 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: GSR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; PMID(s): 8533822
Created: 6 Feb 2019, 12:14 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • NA Enzyme Disorder
  • Hemolytic anemia due to glutathione reductase deficiency
  • Enzyme Disorder
OMIM
138300
Clinvar variants
Variants in GSR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: GSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gsr has been classified as Green List (High Evidence).

18 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes NA Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency for gene: GSR

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to GSR.

14 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder for gene: GSR

14 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to GSR.

6 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GSR.

6 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to GSR. Mode of inheritance for gene GSR was changed from to Unknown Added phenotypes Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder for gene: GSR Publications for gene GSR were changed from to 8533822 Rating Changed from Red List (low evidence) to Green List (high evidence)

6 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GSR was added gene: GSR was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GSR was set to