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  2. Haem degradation and bilirubin metabolism defects
  3. UROD
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Haem degradation and bilirubin metabolism defects

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

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Green in PanelApp UK. PMID: 9792863 describes multiple individuals/families.

Also reviewed in GeneReviews (Available from: https://www.ncbi.nlm.nih.gov/books/NBK143129/)
Created: 25 Jun 2020, 5:07 a.m. | Last Modified: 25 Jun 2020, 5:07 a.m.
Panel Version: 0.1

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

Phenotypes
Porphyria cutanea tarda

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Jun 2020, 5:07 a.m.
Last Modified: 25 Jun 2020, 5:07 a.m.
Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
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

25 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UROD were set to

25 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UROD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: UROD was added gene: UROD was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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)