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Red cell disorders

Gene: GSR

Amber List (moderate evidence)
GSR (glutathione-disulfide reductase)
EnsemblGeneIds (GRCh38): ENSG00000104687
EnsemblGeneIds (GRCh37): ENSG00000104687
OMIM: 138300, Gene2Phenotype
GSR is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported, some functional evidence.
Created: 8 Sep 2021, 7:45 a.m. | Last Modified: 8 Sep 2021, 7:45 a.m.
Panel Version: 0.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 8 Sep 2021, 7:45 a.m.
Last Modified: 8 Sep 2021, 7:45 a.m.
Panel version: 0.72

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
Phenotypes
  • Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660
OMIM
138300
Clinvar variants
Variants in GSR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gsr has been classified as Amber List (Moderate Evidence).

8 Sep 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GSR were changed from Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder; NA Enzyme Disorder to Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660

8 Sep 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GSR were set to 8533822

8 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gsr has been classified as Amber List (Moderate Evidence).

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GSR was added gene: GSR was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: GSR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSR were set to 8533822 Phenotypes for gene: GSR were set to Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency; NA Enzyme Disorder