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| Aminoacidopathy v1.97 | UROC1 | Zornitza Stark Marked gene: UROC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.97 | UROC1 | Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.97 | UROC1 | Zornitza Stark Classified gene: UROC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.97 | UROC1 | Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.95 | UROC1 |
Sangavi Sivagnanasundram gene: UROC1 was added gene: UROC1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROC1 were set to 19304569; 30619714; 32439973; 27391121 Phenotypes for gene: UROC1 were set to urocanic aciduria MONDO:0010167 Review for gene: UROC1 was set to AMBER Added comment: The relationship between the phenotypes and evidence of biochemical abnormality remains unclear for this gene-disease association. Variants have been reported in 4 unrelated individuals however one individual was reported to be phenotypically asymptomatic except for evidence of urocanase deficiency in a biochemical assay (PMID: 30619714). Classified Moderate by Aminoacidopathy GCEP on 26/04/2024 - https://search.clinicalgenome.org/CCID:006504 Sources: ClinGen |
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