PanelApp
  1. Genes and Genomic Entities
  2. UROS

UROS

uroporphyrinogen III synthase
OMIM: 606938, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green UROS in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.328

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Porphyria, congenital erythropoietic, MIM# 263700

Green UROS in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Porphyria, congenital erythropoietic (MIM#263700)

Green UROS in Photosensitivity Syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.10

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Porphyria, congenital erythropoietic (MIM#263700)

Green UROS in Haem degradation and bilirubin metabolism defects


Level 2: Metabolic disorders
Version 0.19

Component of the following Super Panels:

  • Liverome Superpanel
  • Metabolic Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Porphyrias with erosive photodermatosis
    • Porphyria, congenital erythropoietic 263700

    Green UROS in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Porphyria, congenital erythropoietic, 263700 (3)

    Green UROS in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Porphyria, congenital erythropoietic

    Green UROS in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Porphyria, congenital erythropoietic - MIM#263700
    • hydrops fetalis
    • multiple congenital anomalies

    Green UROS in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902

    Green UROS in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Porphyria, congenital erythropoietic MIM#263700
    Tags
    • treatable
    • haematological