PanelApp
  1. Genes and Genomic Entities
  2. HAAO

HAAO

3-hydroxyanthranilate 3,4-dioxygenase
OMIM: 604521, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green HAAO in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.159

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660

    Green HAAO in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.474

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Literature
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660
    • Atrial septal defect
    • Hypoplastic left heart syndrome
    • Aortic stenosis
    • Mitral stenosis
    • Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis
    • Lsvc and left pulmonary artery arising from the ductus arteriosus
    • Shone syndrome with aortic coarctation

    Green HAAO in Mendeliome


    Version 1.3512

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660
    • NAD deficiency

    Green HAAO in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.238

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660

    Green HAAO in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660
    • NAD deficiency

    Green HAAO in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 1 617660

    Green HAAO in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060554