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Intellectual disability

Gene: GSS

Amber List (moderate evidence)

GSS (glutathione synthetase)
EnsemblGeneIds (GRCh38): ENSG00000100983
EnsemblGeneIds (GRCh37): ENSG00000100983
OMIM: 601002, Gene2Phenotype
GSS is in 8 panels

5 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Amber. This gene was rated as Amber in v2.467 and incorrectly automatically demoted to Red in v2.468. This was due to a defect in the automatic PanelApp uploading tool where a reference gene list was added as a new Source (Victorian Clinical Genetics Services), and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been
Created: 29 Sep 2018, 9:33 p.m.
Comment on publications: Added publications from Sarah Leigh (Genomics England), 5 Mar 2018 review
Created: 14 Mar 2018, noon

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Unclear clinical utility in an isolated ID cohort based upon the current evidence.
Created: 8 Mar 2018, 2:12 p.m.
Comment on list classification: PMID 15717202 states: "The mildly affected patients have isolated haemolytic anaemia, the moderately affected patients also have metabolic acidosis, and the severely affected patients additionally show progressive dysfunction of the central nervous system." Precise phenotypic information on the severe group is not provided but given that progressive dysfunction is referred to, it suggests that this is not initially a core part of the phenotype and therefore is of questionable use on this panel. Further cases would be helpful to determine this. At present, I suspect that this phenotype would be more likely to be detected via the undiagnosed metabolic or haematological routes.
Created: 8 Mar 2018, 1:54 p.m.

Sarah Leigh (Genomics England Curator)

Neurological defects including mental retardation reported in cases of severe Glutathione synthetase deficiency 266130.
Reported as a gene linked to isolated ID and ID associated disorders (Vissers 2016 PMID 26503795)

and as an ID candidate gene (Gilessen 2014 PMID 24896178) 
Created: 5 Mar 2018, 4:57 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

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

History Filter Activity

29 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

28 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to GSS.

14 Mar 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for GSS were set to 29340523; 24896178; 26503795; 8896573; 15990954

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

12 Mar 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

12 Mar 2018, Gel status: 2

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to GSS. Panel: Intellectual disability Model of inheritance for gene GSS was set to BIALLELIC, autosomal or pseudoautosomal

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GSS was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GSS was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen