Cutaneous photosensitivity with a likely genetic cause
Gene: UROS

UROS (uroporphyrinogen III synthase)
EnsemblGeneIds (GRCh38): ENSG00000188690
EnsemblGeneIds (GRCh37): ENSG00000188690
OMIM: 606938, Gene2Phenotype
UROS is in 10 panels

1 review

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that genes associated with porphyrias should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.

Panel Version: 0.10

Created: 2 Dec 2019, 3:48 p.m.
Last Modified: 2 Dec 2019, 3:48 p.m.
Panel version: 0.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review

Phenotypes

Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
Porphyria, congenital erythropoietic 263700

OMIM

606938

Clinvar variants

Variants in UROS

Penetrance

None

Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to UROS. Added phenotypes Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis); Porphyria, congenital erythropoietic 263700 for gene: UROS Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: UROS was added gene: UROS was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)

Cutaneous photosensitivity with a likely genetic cause Gene: UROS