Hyperammonaemia
Gene: CPS1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonaemia due to
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 17 Aug 2016, 2:11 p.m.
Comment on phenotypes: Also associated with Pulmonary hypertension, neonatal, susceptibility to 615371, Venoocclusive disease after bone marrow transplantationCreated: 17 Aug 2016, 2:11 p.m.
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.
Promoted to version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CPS1 were set to Carbamoylphosphate synthetase I deficiency 237300
Mode of inheritance for CPS1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CPS1 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory
CPS1 was added to Hyperammonaemiapanel. Sources: UKGTN