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Red cell disorders

Gene: GSS

Green List (high evidence)
GSS (glutathione synthetase)
EnsemblGeneIds (GRCh38): ENSG00000100983
EnsemblGeneIds (GRCh37): ENSG00000100983
OMIM: 601002, Gene2Phenotype
GSS is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 9 Sep 2021, 3:14 a.m. | Last Modified: 9 Sep 2021, 3:14 a.m.
Panel Version: 0.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemolytic anaemia due to glutathione synthetase deficiency, MIM# 231900

Publications

Created: 9 Sep 2021, 3:14 a.m.
Last Modified: 9 Sep 2021, 3:14 a.m.
Panel version: 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Haemolytic anaemia due to glutathione synthetase deficiency, MIM# 231900
OMIM
601002
Clinvar variants
Variants in GSS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GSS were changed from 231900 Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency, 231900; 266130 Glutathione synthetase deficiency; Enzyme Disorder; Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency to Haemolytic anaemia due to glutathione synthetase deficiency, MIM# 231900

9 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GSS were set to 8896573

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 231900 Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency, 231900; Enzyme Disorder; 266130 Glutathione synthetase deficiency; Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency for gene: GSS

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: GSS was added gene: GSS was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSS were set to 8896573 Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130; Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency; 231900 Enzyme Disorder; 266130 Glutathione synthetase deficiency; Hemolytic anemia due to glutathione synthetase deficiency, 231900