1. Panels
  2. DDG2P
  3. UROC1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: UROC1

Red List (low evidence)
UROC1 (urocanate hydratase 1)
EnsemblGeneIds (GRCh38): ENSG00000159650
EnsemblGeneIds (GRCh37): ENSG00000159650
OMIM: 613012, Gene2Phenotype
UROC1 is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for UROC1-related urocanase deficiency are disputed, biallelic_autosomal and undetermined (PMIDs: 19304569, 27391121, 30619714, 32439973). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01370.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease UROCANASE DEFICIENCY, OMIM:276880 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and uncertain (PMID:19304569).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
UROC1-related urocanase deficiency; OMIM:276880; MONDO:0010167

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.424

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: uncertain
Created: 19 Nov 2018, 11:31 a.m.
Created: 19 Nov 2018, 11:31 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • UROCANASE DEFICIENCY 276880
OMIM
613012
Clinvar variants
Variants in UROC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: UROC1 was changed from Other to None

13 Feb 2026, Gel status: 1

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to UROC1. Rating Changed from Green List (high evidence) to Red List (low evidence)

4 Oct 2023, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene UROC1 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: UROC1 was added gene: UROC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROC1 were set to 19304569 Phenotypes for gene: UROC1 were set to UROCANASE DEFICIENCY 276880 Mode of pathogenicity for gene: UROC1 was set to Other - please provide details in the comments