Cutaneous photosensitivity with a likely genetic cause

Gene: UROD

Green List (high evidence)

UROD (uroporphyrinogen decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000126088
EnsemblGeneIds (GRCh37): ENSG00000126088
OMIM: 613521, Gene2Phenotype
UROD is in 6 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
OMIM
613521
Clinvar variants
Variants in UROD
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 UROD. Added phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) for gene: UROD 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: UROD was added gene: UROD was added to Cutaneous photosensitivity with a likely genetic cause. Sources: Expert Review Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)