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Fetal anomalies

Gene: CPS1

Red List (low evidence)
CPS1 (carbamoyl-phosphate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000021826
EnsemblGeneIds (GRCh37): ENSG00000021826
OMIM: 608307, Gene2Phenotype
CPS1 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Presents post-natally.
Created: 10 Feb 2022, 1:27 a.m. | Last Modified: 10 Feb 2022, 1:27 a.m.
Panel Version: 0.3235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carbamoylphosphate synthetase I deficiency MIM#237300

Created: 10 Feb 2022, 1:27 a.m.
Last Modified: 10 Feb 2022, 1:27 a.m.
Panel version: 0.3235

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

Metabolic disorder with two main forms: a lethal neonatal type and a less severe, delayed-onset type. Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia.

PMID:8486760
Identified a homozygous missense mutation in a newborn Japanese girl with CPS I deficiency.

PMID:17310273
Identified 25 different mutations in the CPS1 gene, including 19 novel mutations n 16 of 18 in Japanese patients with a clinical diagnosis of CPS I deficiency. Two patients with confirmed CPS I deficiency had later onset at ages 13 and 31 years, respectively. Genotype/phenotype correlations were not observed.

PMID:21120950
By analyzing tissue and DNA samples from 205 individuals with CPS I deficiency spanning 24 years, Haberle et al. (2011) identified 192 different pathogenic mutations in the CPS1 gene, including 130 novel mutations. When combined with previously reported mutations, it was clear that most mutations (90%) were private, occurring in only 1 family each. The few recurrent mutations tended to occur at CpG dinucleotides. Most missense mutations occurred around exon 24, at the boundary between both homologous halves of the region encoding the 120-kD catalytic moiety of the enzyme. Mutations also clustered at the bicarbonate and carbamate phosphorylation domains, at the NAG cofactor binding domain, and at the interface between the large and small subunit-like moieties. Comparative modeling using the E. coli enzyme showed that the location of missense mutations correlated with evolutionary importance and included internal residues, suggesting that they affect protein folding.
Created: 9 Feb 2022, 11:46 p.m. | Last Modified: 9 Feb 2022, 11:46 p.m.
Panel Version: 0.3235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carbamoylphosphate synthetase I deficiency MIM#237300

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Feb 2022, 11:46 p.m.
Last Modified: 9 Feb 2022, 11:46 p.m.
Panel version: 0.3235

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Carbamoylphosphate synthetase I deficiency MIM#237300
OMIM
608307
Clinvar variants
Variants in CPS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cps1 has been classified as Red List (Low Evidence).

10 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CPS1 were changed from CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY to Carbamoylphosphate synthetase I deficiency MIM#237300

10 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CPS1 were set to

24 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CPS1 was added gene: CPS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPS1 were set to CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY