Hyperammonaemia
Gene: CPS1

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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

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.

Created: 17 Aug 2016, 2:11 p.m.

Panel version: 0.17

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.

Created: 5 Nov 2015, 5:19 p.m.

Panel version: 0

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