Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.30
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review
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Not set
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Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450
- {Myocardial infarction, susceptibility to}, 608446
- Myocardial infarction, susceptibility to, 608446
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Enzyme Disorder
- Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450
- Glutamate-cysteine ligase deficiency
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
- 230450 Glutamate-cysteine ligase deficiency
- Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450
- Glutamate-cysteine ligase deficiency
- Enzyme Disorder
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle)
- Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
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Version 4.134
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
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle)
- Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450
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