Hyperammonaemia

Gene: CPS1

Green List (high evidence)

CPS1 (carbamoyl-phosphate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000021826
EnsemblGeneIds (GRCh37): ENSG00000021826
OMIM: 608307, Gene2Phenotype
CPS1 is in 9 panels

3 reviews

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonaemia due to

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 17 Aug 2016, 2:11 p.m.
Comment on phenotypes: Also associated with Pulmonary hypertension, neonatal, susceptibility to 615371, Venoocclusive disease after bone marrow transplantation
Created: 17 Aug 2016, 2:11 p.m.

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Carbamoylphosphate synthetase I deficiency 237300
OMIM
608307
Clinvar variants
Variants in CPS1
Penetrance
Complete
Panels with this gene

History Filter Activity

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

17 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CPS1 were set to Carbamoylphosphate synthetase I deficiency 237300

17 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

17 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

CPS1 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CPS1 was added to Hyperammonaemiapanel. Sources: UKGTN