Miscellaneous Metabolic Disorders

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three individuals from two families, one presenting with ID/ataxia, and the sibs from the second family following a normal clinical course despite distinctive biochemical abnormalities.
Sources: Expert list
Created: 29 Jan 2021, 11:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Urocanase deficiency, MIM#276880

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Urocanase deficiency, MIM#276880
OMIM
613012
Clinvar variants
Variants in UROC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, 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).

29 Jan 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UROC1 were set to 19304569 30619714

29 Jan 2021, 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).

29 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UROC1 was added gene: UROC1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROC1 were set to 19304569 30619714 Phenotypes for gene: UROC1 were set to Urocanase deficiency, MIM#276880 Review for gene: UROC1 was set to AMBER