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Newborns main panel

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

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:12591
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
semidominant, are we only interested in AD? -> KS: This phenotype has onset in mid-late adulthood and it is usually AD with low penetrance so won't be on the list. I've added the paediatric onset AR phenotype (Porphyria, hepatoerythropoietic). NB complete loss of UROD is lethal.
Created: 17 May 2023, 1:50 p.m. | Last Modified: 17 May 2023, 1:50 p.m.
Panel Version: 0.83
Created: 17 May 2023, 1:50 p.m.
Last Modified: 17 May 2023, 1:50 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Porphyria, hepatoerythropoietic
OMIM
613521
Clinvar variants
Variants in UROD
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Porphyria, hepatoerythropoietic for gene: UROD

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to UROD. Added phenotypes Porphyria, hepatoerythropoietic for gene: UROD Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: UROD were changed from Porphyria, hepatoerythropoietic; Porphyria cutanea tarda to Porphyria, hepatoerythropoietic

31 May 2023, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to UROD. Mode of inheritance for gene UROD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Porphyria, hepatoerythropoietic for gene: UROD Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to UROD. Rating Changed from Red List (low evidence) to No List (delete)

27 Mar 2023, Gel status: 1

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

Mafalda Gomes (Genomics England Curator)

gene: UROD was added gene: UROD was added to Newborns main panel. Sources: Expert Review Red 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