Non-acute porphyrias

Gene: UROS

Green List (high evidence)

UROS (uroporphyrinogen III synthase)
EnsemblGeneIds (GRCh38): ENSG00000188690
EnsemblGeneIds (GRCh37): ENSG00000188690
OMIM: 606938, Gene2Phenotype
UROS is in 11 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 24 Jan 2019, 4:21 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: UROS; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 3:53 p.m.

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
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Porphyria, congenital erythropoietic OMIM:263700
  • cutaneous porphyria MONDO:0009902
OMIM
606938
Clinvar variants
Variants in UROS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) to Porphyria, congenital erythropoietic OMIM:263700; cutaneous porphyria MONDO:0009902

17 Mar 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: UROS were set to 27604308

24 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

11 Jan 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

Source Other was added to UROS. Mode of inheritance for gene UROS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) for gene: UROS Publications for gene UROS were changed from to 27604308

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to UROS. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: UROS was added gene: UROS was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: UROS was set to