Aminoacidopathy
Gene: CPS1EnsemblGeneIds (GRCh38): ENSG00000021826
EnsemblGeneIds (GRCh37): ENSG00000021826
OMIM: 608307, Gene2Phenotype
CPS1 is in 12 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/10/2018 - https://search.clinicalgenome.org/CCID:004568
Well established gene-disease association. Reported individuals are deficient in CPS which affects their urea cycle. Classified as an inborn error of metabolism of the urea cycle.
Sources: ClinGenCreated: 23 May 2024, 5:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
carbamoyl phosphate synthetase I deficiency disease MONDO:0009376
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- carbamoyl phosphate synthetase I deficiency disease MONDO:0009376
- OMIM
- 608307
- Clinvar variants
- Variants in CPS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cps1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cps1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: CPS1 was added gene: CPS1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPS1 were set to 9862865; 29801986; 27834067; 27150549; 22173106 Phenotypes for gene: CPS1 were set to carbamoyl phosphate synthetase I deficiency disease MONDO:0009376 Review for gene: CPS1 was set to GREEN