Non-acute porphyriasGene: UROS
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.
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
Porphyria, congenital erythropoietic 263700
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.
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
Publications for gene: UROS were set to 27604308
Gene: uros has been classified as Green List (High Evidence).
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
Source Expert Review Green was added to UROS. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: UROS was added gene: UROS was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: UROS was set to