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  3. GSS
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Cytopenias and congenital anaemias

Gene: GSS

Green List (high evidence)
GSS (glutathione synthetase)
EnsemblGeneIds (GRCh38): ENSG00000100983
EnsemblGeneIds (GRCh37): ENSG00000100983
OMIM: 601002, Gene2Phenotype
GSS is in 7 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Relevant phenotype plus sufficient cases for causation.
Created: 9 Mar 2017, 10:51 a.m.
Comment on list classification: Updated rating from Red to Green: At least 3 cases to support GSS-deficiency as cause for hemolytic anemia: E.g. PMID:8896573 (Scottish) plus 2 unrelated Spanish patients in PMID:11167850.
Created: 9 Mar 2017, 10:50 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 9 Mar 2017, 10:50 a.m.
Created: 9 Mar 2017, 10:50 a.m.

Panel version: 0.462

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency

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

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

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Enzyme Disorder
  • Hemolytic anemia due to glutathione synthetase deficiency, 231900
  • Glutathione synthetase deficiency, 266130
OMIM
601002
Clinvar variants
Variants in GSS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Mar 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GSS were set to Enzyme Disorder;Hemolytic anemia due to glutathione synthetase deficiency, 231900; Glutathione synthetase deficiency, 266130

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for GSS were set to Hemolytic anemia due to glutathione synthetase deficiency, 231900; Glutathione synthetase deficiency, 266130

9 Mar 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for GSS was changed to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for GSS were set to 10450861; 16435214; 8896573; 11167850

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GSS was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

GSS was created by LouiseD