Extreme early-onset hypertension

Gene: CPS1

Red List (low evidence)

CPS1 (carbamoyl-phosphate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000021826
EnsemblGeneIds (GRCh37): ENSG00000021826
OMIM: 608307, Gene2Phenotype
CPS1 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous variants reported in Carbamoylphosphate synthetase I deficiency, 237300 (not relevant to this panel). At least one variant reported in Pulmonary hypertension, neonatal, susceptibility to, 615371 (not relevant to this panel).
Created: 3 Aug 2016, 8:54 a.m.

Details

Mode of Inheritance
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}
OMIM
608307
Clinvar variants
Variants in CPS1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

3 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CPS1 was changed to BIALLELIC, autosomal or pseudoautosomal

3 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CPS1 were set to Carbamoylphosphate synthetase I deficiency, 237300; {Pulmonary hypertension, neonatal, susceptibility to}, 615371; {Venoocclusive disease after bone marrow transplantation}

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CPS1 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen