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Inborn errors of metabolism

Gene: UROC1

Amber List (moderate evidence)

UROC1 (urocanate hydratase 1)
EnsemblGeneIds (GRCh38): ENSG00000159650
EnsemblGeneIds (GRCh37): ENSG00000159650
OMIM: 613012, Gene2Phenotype
UROC1 is in 7 panels

2 reviews

Catherine Snow (Genomics England)

I don't know

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

PMID 19304569 reports on a proband who is a compound heterozygote for the UROC1p.L70P/p.R450C mutations and suffers from urocanic aciduria presenting with mental retardation and intermittent ataxia.

PMID: 30619714 reports on two siblings diagnosed with urocanic aciduria presumed to be due to urocanase deficiency but have followed a normal clinical course with normal growth and development. Both subjects were found to be compound heterozygotes for missense variants in UROC1: c.356C > G (p.P119R) and c.907G > C (p.A303P). The mother was heterozygous for the variant c.356C > G (p.P119R), while the father was heterozygous for c.907G > C (p.A303P).

Maintaining an Amber rating as only 3 people in 2 families, have been identified.
Created: 14 Oct 2019, 3:33 p.m. | Last Modified: 14 Oct 2019, 3:33 p.m.
Panel Version: 1.354

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Urocanase deficiency, 276880

Publications

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Intellectual disability
  • Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism)
OMIM
613012
Clinvar variants
Variants in UROC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2019, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: UROC1 were set to 27604308

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to UROC1. Source London North GLH was added to UROC1.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: UROC1 was added gene: UROC1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROC1 were set to 27604308 Phenotypes for gene: UROC1 were set to Intellectual disability; Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism)