Genomics England
GMS Panels
Panels
Genes and Entities

HAAO

3-hydroxyanthranilate 3,4-dioxygenase
OMIM: 604521
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 1 617660
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital malformations, VACTERL-like phenotype
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple congenital malformations, VACTERL-like phenotype
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VACTERL-like phenotype, Multiple congenital malformations