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  3. GSR
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Anaemias and red cell disorders

Gene: GSR

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Enzyme Disorder; Hemolytic anemia due to glutathione reductase deficiency

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Enzyme Disorder
  • Hemolytic anemia due to glutathione reductase deficiency
OMIM
138300
Clinvar variants
Variants in GSR
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 0

Approved Gene

Louise Daugherty (Genomics England Curator)

This proposed gene was validated and added to this panel

16 Jan 2017, Gel status: 0

Approved Gene

Louise Daugherty (Genomics England Curator)

This proposed gene was validated and added to this panel

16 Jan 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

GSR was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)

16 Jan 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

GSR was created by BRIDGE