1. Panels
  2. Photosensitivity Syndromes
  3. UROD
STRs in panel
Prev Next
Regions in panel
Prev Next

Photosensitivity Syndromes

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Photosensitivity is a feature of the phenotype (OMIM). Heterozygous variants cause Porphyria Cutanea Tarda (Type 1 and 2) and biallelic variants result in hepatoerythropoietic porphyria (HEP) (hematologic and severe photosensitive cutaneous manifestations in infancy or childhood)
Sources: Expert Review
Created: 22 Jul 2020, 1:22 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Porphyria cutanea tarda; Porphyria, hepatoerythropoietic (MIM#176100)

Publications

Created: 22 Jul 2020, 1:22 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Porphyria cutanea tarda
  • Porphyria, hepatoerythropoietic (MIM#176100)
OMIM
613521
Clinvar variants
Variants in UROD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 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).

22 Jul 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).

22 Jul 2020, Gel status: 0

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

Crystle Lee (Victorian Clinical Genetics Services)

gene: UROD was added gene: UROD was added to Photosensitivity Syndromes. Sources: Expert Review Mode of inheritance for gene: UROD was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: UROD were set to 23545314; 30514647 Phenotypes for gene: UROD were set to Porphyria cutanea tarda; Porphyria, hepatoerythropoietic (MIM#176100) Review for gene: UROD was set to GREEN