VACTERL-like phenotypes

Gene: HAAO

Green List (high evidence)

HAAO (3-hydroxyanthranilate 3,4-dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000162882
EnsemblGeneIds (GRCh37): ENSG00000162882
OMIM: 604521, Gene2Phenotype
HAAO is in 11 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed with the clinical team that this gene has enough evidence to be green.
Created: 5 Sep 2017, 8:56 a.m.
Comment on list classification: Two unrelated cases are reported in a new publication PMID: 28792876. One case in a consanguineous Lenanese family (Family B) was found to be homozygous for a stop codon, both unaffected parents and 3 unaffected siblings were heterozygous. The second case in a consanguineous family from Iraq (Family A), was homozygous for a c.483dupT variants resulting in a stop codon. Both unaffected parents and 4 unaffected siblings were heterozygous. Metabolites upstream of HAAO in the kynurenine pathway were higher in patients A and B than unaffected family members. Downstream, levels of NAD+ in plasma from the patients were a third to a quarter the levels of unaffected family members. In vitro assays demonstrated that the stop codon variants result in reduced enzyme activity. Knockout mouse model embryos on a niacin-free diet developed similar defects to the patients. Added the 'treatable' tag to indicate that naicin supplementation during gestation prevented the malformations in the null mice.
Created: 11 Aug 2017, 9:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital malformations; VACTERL-like phenotype

Publications

History Filter Activity

5 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 Aug 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HAAO was created by ellenmcdonagh

11 Aug 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HAAO was added to VACTERL-like phenotypespanel. Sources: Literature