ALAD

aminolevulinate dehydratase
OMIM: 125270, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ALAD in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Porphyria, acute hepatic , MIM#612740

Green ALAD in Haem degradation and bilirubin metabolism defects


Level 2: Metabolic disorders
Version 0.17

Component of the following Super Panels:

  • Liverome Superpanel
  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Porphyria, acute hepatic 612740
    • {Lead poisoning, susceptibility to} 612740
    • Acute hepatic porphyria (Acute neuropathic porphyrias)

    Green ALAD in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Porphyria, acute hepatic, 612740 (3)

    Red ALAD in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Porphyria, acute hepatic , MIM#612740

    Green ALAD in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Porphyria, acute hepatic, 612740 (3)