Likely inborn error of metabolism
Gene: UROD

UROD (uroporphyrinogen decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000126088
EnsemblGeneIds (GRCh37): ENSG00000126088
OMIM: 613521, Gene2Phenotype
UROD is in 5 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Clear evidence of association with the phenotype, unlikely to present via metabolic but not impossible so considered green
Created: 23 Feb 2017, 5:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)

Publications

Created: 23 Feb 2017, 5:17 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

London North GLH
NHS GMS
Expert Review Green

Phenotypes

Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)

OMIM

613521

Clinvar variants

Variants in UROD

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to UROD. Source London North GLH was added to UROD.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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