Photosensitivity Syndromes
Gene: UROSEnsemblGeneIds (GRCh38): ENSG00000188690
EnsemblGeneIds (GRCh37): ENSG00000188690
OMIM: 606938, Gene2Phenotype
UROS is in 9 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
>10 missense variants reported in CEP patients. Photosensitivity is a significant feature of this phenotype.
PMID: 28334762: Performed in silico and in vitro studies on 29 missense variants previously reported in patients.
Sources: Expert ReviewCreated: 22 Jul 2020, 1 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Porphyria, congenital erythropoietic (MIM#263700)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Porphyria, congenital erythropoietic (MIM#263700)
- OMIM
- 606938
- Clinvar variants
- Variants in UROS
- 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: uros has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: uros has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Crystle Lee (Victorian Clinical Genetics Services)gene: UROS was added gene: UROS was added to Photosensitivity Syndromes. Sources: Expert Review Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROS were set to 28334762; 27512208 Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic (MIM#263700) Review for gene: UROS was set to GREEN