UROS

uroporphyrinogen III synthase
OMIM: 606938, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red UROS in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Porphyria, congenital erythropoietic, 263700 Congenital erythropoietic porphyria Gunther's disease
Green UROS in Non-acute porphyrias Version 1.24 Latest signed off version: v1.4 (15 Oct 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Porphyria, congenital erythropoietic OMIM:263700 cutaneous porphyria MONDO:0009902
Green UROS in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Porphyria, congenital erythropoietic 263700 Tags treatable
Green UROS in Cutaneous photosensitivity with a likely genetic cause Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) Porphyria, congenital erythropoietic 263700
Green UROS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) Porphyria, congenital erythropoietic 263700 Tags treatable
Green UROS in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) Porphyria, congenital erythropoietic 263700
Green UROS in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes CONGENITAL ERYTHROPOIETIC PORPHYRIA
Green UROS in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL ERYTHROPOIETIC PORPHYRIA 263700
Red UROS in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Porphyria, congenital erythropoietic, 263700
Red UROS in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green UROS in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Porphyria, congenital erythropoietic, 263700