1. Panels
  2. Haem degradation and bilirubin metabolism defects
  3. UROS
STRs in panel
Prev Next
Regions in panel
Prev Next

Haem degradation and bilirubin metabolism defects

Gene: UROS

Green List (high evidence)
UROS (uroporphyrinogen III synthase)
EnsemblGeneIds (GRCh38): ENSG00000188690
EnsemblGeneIds (GRCh37): ENSG00000188690
OMIM: 606938, Gene2Phenotype
UROS is in 9 panels

2 reviews

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>10 missense variants reported in CEP patients.

PMID: 28334762: Performed in silico and in vitro studies on 29 missense variants previously reported in patients.
Created: 22 Jul 2020, 1:02 a.m. | Last Modified: 22 Jul 2020, 1:02 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Porphyria, congenital erythropoietic (MIM#263700)

Publications

Created: 22 Jul 2020, 1:02 a.m.
Last Modified: 22 Jul 2020, 1:02 a.m.
Panel version: 0.11

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Green in PanelApp UK citing Xu et al 1996, which reviews >20 individuals with congenital erythropoietic porphyria and variants in UROS.

Also reviewed in GeneReviews (Available from: https://www.ncbi.nlm.nih.gov/books/NBK154652/)
Created: 25 Jun 2020, 12:19 a.m. | Last Modified: 25 Jun 2020, 12:19 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital erythropoietic porphyria

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Jun 2020, 12:19 a.m.
Last Modified: 25 Jun 2020, 12:19 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Porphyrias with erosive photodermatosis
  • Porphyria, congenital erythropoietic 263700
OMIM
606938
Clinvar variants
Variants in UROS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UROS were set to 8829650

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uros has been classified as Green List (High Evidence).

25 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UROS were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: UROS was added gene: UROS was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to Porphyrias with erosive photodermatosis; Porphyria, congenital erythropoietic 263700