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  3. UROC1
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Aminoacidopathy

Gene: UROC1

Amber List (moderate evidence)
UROC1 (urocanate hydratase 1)
EnsemblGeneIds (GRCh38): ENSG00000159650
EnsemblGeneIds (GRCh37): ENSG00000159650
OMIM: 613012, Gene2Phenotype
UROC1 is in 5 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

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
Created: 18 Jul 2024, 1:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
urocanic aciduria MONDO:0010167

Publications

Created: 18 Jul 2024, 1:52 a.m.

Panel version: 1.95

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • urocanic aciduria MONDO:0010167
OMIM
613012
Clinvar variants
Variants in UROC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uroc1 has been classified as Amber List (Moderate Evidence).

18 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uroc1 has been classified as Amber List (Moderate Evidence).

18 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

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