1. Genes and Genomic Entities
  2. HAAO

HAAO

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green HAAO in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple congenital malformations
  • VACTERL-like phenotype
Tags
  • treatable
Green HAAO in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.181

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple congenital malformations
  • VACTERL-like phenotype
Tags
  • treatable
Green HAAO in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple congenital malformations
  • VACTERL-like phenotype
Tags
  • treatable
Green HAAO in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

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
    • Expert Review Green
    Phenotypes
    • Multiple congenital malformations
    • VACTERL-like phenotype
    Green HAAO in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE Additional Gene List
    Phenotypes
    • Vertebral, cardiac, renal, and limb defects syndrome 1 617660
    Green HAAO in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NAD deficiency disorder
    Green HAAO in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Multiple congenital malformations
    • VACTERL-like phenotype
    Tags
    • treatable
    Red HAAO in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green HAAO in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.4
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

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