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Inborn errors of metabolism

Gene: UROS

Green List (high evidence)

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

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Sufficient evidence of causation in terms of families / variants. More likely to present via metabolic in terms of multi-system abnormality of early onset
Created: 23 Feb 2017, 5:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Porphyria, congenital erythropoietic 263700

Publications

Sarah Leigh (Genomics England Curator)

From: Clinical Genomic Database: Porphyria, congenital erythropoietic INTERVENTION/RATIONALE: Transfusions can be beneficial
Individuals can prevent with bleeding diatheses, and prompt treatment may be beneficial
Limitation to sun exposure may be beneficial due ot photosensitivity
Manifestations such as thrombocytopenia and hemolytic anemia, may be effectively treated by splenectomy
Use of oral sorbents have been described
BMT has been described in severe cases
Created: 9 Feb 2017, 2:49 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
  • Porphyria, congenital erythropoietic 263700
OMIM
606938
Clinvar variants
Variants in UROS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to UROS. Source London North GLH was added to UROS.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: UROS was added gene: UROS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROS were set to 27604308 Phenotypes for gene: UROS were set to Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis); Porphyria, congenital erythropoietic 263700