Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Carbamoylphosphate synthetase I deficiency 237300
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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.21
Component of the following Super Panels:
Renal superpanel - broad
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Carbamoylphosphate synthetase I deficiency, 237300
- {Pulmonary hypertension, neonatal, susceptibility to}, 615371
- {Venoocclusive disease after bone marrow transplantation}
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
- Carbamoylphosphate synthetase I deficiency
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Carbamoylphosphate synthetase I deficiency
- Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Carbamoylphosphate synthetase I deficiency, 237300{Pulmonary hypertension, neonatal, susceptibility to}, 615371{Venoocclusive disease after bone marrow transplantation}
- CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY (CPS1D)
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
- London South GLH
Phenotypes
- Carbamoylphosphate synthetase I deficiency
- Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Carbamoylphosphate synthetase I deficiency, 237300
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