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  3. GSS
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Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive by ClinGen Aminoacidopathy GCEP on 26/04/2019 -https://search.clinicalgenome.org/CCID:005016

Well established gene-disease association with reported individuals having errors in glutathione metabolism.
Sources: ClinGen
Created: 6 Jun 2024, 5:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
inherited glutathione synthetase deficiency MONDO:0017909

Publications

Created: 6 Jun 2024, 5:32 a.m.

Panel version: 1.47

History Filter Activity

7 Jun 2024, 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).

7 Jun 2024, 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).

6 Jun 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: GSS was added gene: GSS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSS were set to 17397529 Phenotypes for gene: GSS were set to inherited glutathione synthetase deficiency MONDO:0017909 Review for gene: GSS was set to GREEN