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Inborn errors of metabolism

Gene: UROD

Green List (high evidence)

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

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
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

Ellen McDonagh (Genomics England Curator)

gene: UROD was added gene: UROD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UROD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UROD were set to 27604308 Phenotypes for gene: UROD were set to Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)