GSS

glutathione synthetase
OMIM: 601002, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green GSS in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	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
Green GSS in Rare anaemia Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Glutathione synthetase deficiency, 266130 Hemolytic anemia due to glutathione synthetase deficiency, 231900 Enzyme Disorder 231900 Enzyme Disorder Hemolytic anemia due to glutathione synthetase deficiency 266130 Glutathione synthetase deficiency
Green GSS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle) Glutathione synthetase deficiency with 5-oxoprolinuria Glutathione synthetase deficiency without 5-oxoprolinuria Glutathione synthetase (GSS) deficiency Pyroglutamic aciduria 5-oxoprolinuria Fanconi nephropathy Glutathione synthetase deficiency 266130 Hemolytic anemia due to glutathione synthetase deficiency 231900 Tags treatable
Green GSS in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glutathione synthetase (GSS) deficiency Glutathione synthetase deficiency 266130 Glutathione synthetase deficiency with 5-oxoprolinuria Glutathione synthetase deficiency without 5-oxoprolinuria Pyroglutamic aciduria 5-oxoprolinuria Hemolytic anemia due to glutathione synthetase deficiency 231900 Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle) Fanconi nephropathy
Amber GSS in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Expert Review Phenotypes Glutathione synthetase deficiency 266130 Hemolytic anemia due to glutathione synthetase deficiency 231900
Amber GSS in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Radboud University Medical Center, Nijmegen Phenotypes Glutathione synthetase deficiency Hemolytic anemia due to glutathione synthetase deficiency 231900
Red GSS in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green GSS in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hemolytic anemia due to glutathione synthetase deficiency, 231900 Glutathione synthetase deficiency, 266130