GSS

glutathione synthetase
OMIM: 601002, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green GSS in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glutathione synthetase deficiency MIM#266130 Hemolytic anemia due to glutathione synthetase deficiency MIM#231900 Disorders of the gamma-glutamyl cycle
Green GSS in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Glutathione synthetase deficiency, MIM# 266130
Green GSS in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glutathione synthetase deficiency, MIM# 266130
Green GSS in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Gluthathione synthetase deficiency, MIM# 266130
Green GSS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutathione synthetase deficiency, 266130 (3)
Green GSS in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glutathione synthetase deficiency
Green GSS in Red cell disorders Level 2: Haematological disorders Version 1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Haemolytic anaemia due to glutathione synthetase deficiency, MIM# 231900
Green GSS in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.48 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutathione synthetase deficiency MIM#266130 Hemolytic anemia due to glutathione synthetase deficiency MIM#231900 Disorders of the gamma-glutamyl cycle
Green GSS in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutathione synthetase deficiency, 266130 (3)
Green GSS in Aminoacidopathy Level 2: Metabolic disorders Version 1.133 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes inherited glutathione synthetase deficiency MONDO:0017909
Red GSS in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Glutathione synthetase deficiency, MIM# 266130 Haemolytic anemia due to glutathione synthetase deficiency 231900
Green GSS in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutathione synthetase deficiency, 266130 (3)