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| Aminoacidopathy v1.37 | CPS1 | Zornitza Stark Marked gene: CPS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.37 | CPS1 | Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.37 | CPS1 | Zornitza Stark Classified gene: CPS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.37 | CPS1 | Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.18 | CPS1 |
Sangavi Sivagnanasundram 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 Added comment: 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: ClinGen |
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