CPS1

carbamoyl-phosphate synthase 1
OMIM: 608307, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CPS1 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

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 1.14

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 1.440

    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 Inborn errors of metabolism


    Version 2.50
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.185
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY

    Green CPS1 in DDG2P


    Version 2.18
    Signed off v.2.2 on 13 Feb 2020

    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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 Cardiomyopathies - including childhood onset


    Version 1.18
    Signed off v.1.4 on 19 Feb 2020

    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 or chorea or related movement disorder


    Version 1.74
    Signed off v.1.58 on 6 Oct 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green CPS1 in Severe Paediatric Disorders


    Version 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Carbamoylphosphate synthetase I deficiency, 237300