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Molecular autopsy

Gene: HAAO

Green List (high evidence)
HAAO (3-hydroxyanthranilate 3,4-dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000162882
EnsemblGeneIds (GRCh37): ENSG00000162882
OMIM: 604521, Gene2Phenotype
HAAO is in 9 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple congenital malformations
  • VACTERL-like phenotype
OMIM
604521
Clinvar variants
Variants in HAAO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Multiple congenital malformations; VACTERL-like phenotype for gene: HAAO

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HAAO was added gene: HAAO was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 27604308; 17334708; 28792876 Phenotypes for gene: HAAO were set to Multiple congenital malformations; VACTERL-like phenotype