UROD

uroporphyrinogen decarboxylase
OMIM: 613521, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green UROD in Non-acute porphyrias Level 2: Gastrohepatology Version 1.35 Latest signed off version: v1.4 (15 Oct 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other NHS GMS Phenotypes Porphyria cutanea tarda OMIM:176100 Porphyria, hepatoerythropoietic OMIM:176100 familial porphyria cutanea tarda MONDO:0008296
Green UROD in Cutaneous photosensitivity with a likely genetic cause Level 2: Dermatology Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Green UROD in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Green UROD in Likely inborn error of metabolism Level 2: Metabolic Version 8.103 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Green Phenotypes Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Red UROD in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH