Rare anaemia

Gene: GSR

This gene was reassessed in view of the recent Amber review by Zornitza Stark (08/09/21). The rating of GSR on this panel was based on consensus and multiple Green expert reviews by the Haematology Specialist Group and therefore this rating will be maintained at this time.

Created: 14 Sep 2021, 10:13 a.m. | Last Modified: 14 Sep 2021, 10:13 a.m.

Panel Version: 1.24

I don't know

I can only find two definite families reported and also note the Red review on the Cytopaenias/red cell anaemias panel.

Created: 8 Sep 2021, 7:46 a.m. | Last Modified: 8 Sep 2021, 7:46 a.m.

Panel Version: 1.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660

Publications

• 17185460
• 31122244

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

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

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.

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