Miscellaneous Metabolic Disorders
Gene: UROC1EnsemblGeneIds (GRCh38): ENSG00000159650
EnsemblGeneIds (GRCh37): ENSG00000159650
OMIM: 613012, Gene2Phenotype
UROC1 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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 listCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: UROC1 were set to 19304569 30619714
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: uroc1 has been classified as Amber List (Moderate Evidence).
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