CPS1

carbamoyl-phosphate synthase 1
OMIM: 608307, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CPS1 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory UKGTN Phenotypes Carbamoylphosphate synthetase I deficiency 237300
Red CPS1 in Extreme early-onset hypertension Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.21 Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	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}
Green CPS1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.616	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) Carbamoylphosphate synthetase I deficiency
Green CPS1 in Likely inborn error of metabolism - targeted testing not possible Version 4.135 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 Carbamoylphosphate synthetase I deficiency Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Red CPS1 in Fetal anomalies Version 3.152 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY
Green CPS1 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300
Green CPS1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.523 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 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)
Red CPS1 in Paediatric or syndromic cardiomyopathy Version 3.44 Latest signed off version: v3.0 (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 NHS GMS Expert Review Red London South GLH Phenotypes Carbamoylphosphate synthetase I deficiency Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
Red CPS1 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green CPS1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Carbamoylphosphate synthetase I deficiency, 237300