Ataxia - paediatric
Gene: GSSEnsemblGeneIds (GRCh38): ENSG00000100983
EnsemblGeneIds (GRCh37): ENSG00000100983
OMIM: 601002, Gene2Phenotype
GSS is in 12 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association (see OMIM entry). Glutathione synthetase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of amino acid metabolism.
Sources: NHS GMSCreated: 4 Feb 2021, 10:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900; Disorders of the gamma-glutamyl cycle
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Typical presentation is with metabolic acidosis and haemolytic anemia, neurological damage and sequelae are present in some and include ID, ataxia, seizures.Created: 12 Sep 2020, 3:59 a.m. | Last Modified: 12 Sep 2020, 3:59 a.m.
Panel Version: 0.235
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutathione synthetase deficiency, MIM# 266130
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Gluthathione synthetase deficiency, MIM# 266130
- OMIM
- 601002
- Clinvar variants
- Variants in GSS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Red cell disorders
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gss has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GSS were changed from Gluthathione synthetase deficiency to Gluthathione synthetase deficiency, MIM# 266130
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GSS were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GSS was added gene: GSS was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSS were set to Gluthathione synthetase deficiency