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Non-acute porphyrias

Gene: UROD

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

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 24 Jan 2019, 4:21 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: UROD; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 3:53 p.m.
Created: 7 Jan 2019, 3:53 p.m.

Panel version: 0.3

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
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Porphyria cutanea tarda OMIM:176100
  • Porphyria, hepatoerythropoietic OMIM:176100
  • familial porphyria cutanea tarda MONDO:0008296
OMIM
613521
Clinvar variants
Variants in UROD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: UROD were changed from Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) to Porphyria cutanea tarda OMIM:176100; Porphyria, hepatoerythropoietic OMIM:176100; familial porphyria cutanea tarda MONDO:0008296

17 Mar 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: UROD were set to 27604308

24 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: urod has been classified as Green List (High Evidence).

11 Jan 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

Source Other was added to UROD. Mode of inheritance for gene UROD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) for gene: UROD Publications for gene UROD were changed from to 27604308

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to UROD. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: UROD was added gene: UROD was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: UROD was set to