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Newborns main panel

Gene: UROS

Green List (high evidence)
UROS (uroporphyrinogen III synthase)
EnsemblGeneIds (GRCh38): ENSG00000188690
EnsemblGeneIds (GRCh37): ENSG00000188690
OMIM: 606938, Gene2Phenotype
UROS is in 10 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 10 Oct 2023, 2:52 p.m. | Last Modified: 10 Oct 2023, 2:52 p.m.
Panel Version: 0.247
PMID: 24027798 - refers to 220 cases
Created: 14 Sep 2023, 11:02 a.m. | Last Modified: 14 Sep 2023, 11:02 a.m.
Panel Version: 0.238
Created: 14 Sep 2023, 11:02 a.m.
Last Modified: 14 Sep 2023, 11:02 a.m.
Panel version: 0.247

History Filter Activity

14 Sep 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: UROS was added gene: UROS was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to Congenital erythropoietic porphyria