Cytopenias and congenital anaemias

Gene: UROS

Green List (high evidence)

Comment on treatable tag: 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: 21 Mar 2017, 2:59 p.m.

Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.

Created: 21 Mar 2017, 2:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Porphyria, congenital erythropoietic 263700