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  2. Cardiomyopathy_Paediatric
  3. CPS1
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Cardiomyopathy_Paediatric

Gene: CPS1

Red List (low evidence)
CPS1 (carbamoyl-phosphate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000021826
EnsemblGeneIds (GRCh37): ENSG00000021826
OMIM: 608307, Gene2Phenotype
CPS1 is in 12 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Carbamoylphosphate synthetase I deficiency
  • Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)
OMIM
608307
Clinvar variants
Variants in CPS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CPS1 was added gene: CPS1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Red,London South GLH Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPS1 were set to 24816252; 27604308 Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency; Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias)