Non-acute porphyriasGene: UROD
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: UROD; 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.
Clear evidence of association with the phenotype, unlikely to present via metabolic but not impossible so considered green
Created: 23 Feb 2017, 5:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Phenotypes for gene: UROD were changed from Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) to Porphyria cutanea tarda OMIM:176100; Porphyria, hepatoerythropoietic OMIM:176100; familial porphyria cutanea tarda MONDO:0008296
Publications for gene: UROD were set to 27604308
Gene: urod has been classified as Green List (High Evidence).
Source Other was added to UROD. Mode of inheritance for gene UROD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) for gene: UROD Publications for gene UROD were changed from to 27604308
Source Expert Review Green was added to UROD. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: UROD was added gene: UROD was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: UROD was set to