UROS

uroporphyrinogen III synthase
OMIM: 606938, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green UROS in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Porphyria, congenital erythropoietic, MIM# 263700
Green UROS in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Porphyria, congenital erythropoietic (MIM#263700)
Green UROS in Haem degradation and bilirubin metabolism defects Level 2: Metabolic disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Porphyrias with erosive photodermatosis Porphyria, congenital erythropoietic 263700
Green UROS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Porphyria, congenital erythropoietic, 263700 (3)
Green UROS in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Porphyria, congenital erythropoietic
Green UROS in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902
Green UROS in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Porphyria, congenital erythropoietic MIM#263700 Tags treatable haematological