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Prepair 1000+

Gene: UROS

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

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy.

HGNC approved symbol/name: UROS
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges?N
Gene reported in >3 independent families
Created: 7 Feb 2025, 3:47 a.m. | Last Modified: 7 Feb 2025, 3:47 a.m.
Panel Version: 1.1460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902

Publications

Created: 7 Feb 2025, 3:47 a.m.
Last Modified: 7 Feb 2025, 3:47 a.m.
Panel version: 1.1460

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902
OMIM
606938
Clinvar variants
Variants in UROS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, 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).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic, 263700 (3) to Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UROS were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UROS was added gene: UROS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, 263700 (3)