Likely inborn error of metabolism - targeted testing not possible
Gene: UROC1
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
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
Publications for gene: UROC1 were set to 27604308
Source NHS GMS was added to UROC1. Source London North GLH was added to UROC1.
Sarah Leigh: Associated with phenotype in O
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)