1. Panels
  2. Fetal anomalies
  3. HAAO
Genes in panel
Prev Next

Fetal anomalies

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Only 2 cases – amber (although for me it would be a yes for the reasons below). Ultrasound findings, although variable in the condition, may be identified, e.g. short long bones, hypoplastic Lt heart, VU reflux, talipes, dysplastic kidney and absent kidney. Combinations of these features would make interpretation of a variant possible. Also, the reported variants so far were truncating.
Created: 11 Feb 2019, 10:55 a.m.
Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (MIM:617660) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team). The literature evidence amounts to 2 unrelated patients, each born of consanguineous parents, with vertebral, cardiac, renal, and limb defects syndrome-1 (MIM:617660) and homozygous truncating variants in HAAO (Shi et al. 2017, PMID:28792876). However, the comment on the 'VACTERL-like phenotypes', 'Undiagnosed metabolic disorders' and 'CAKUT' panels states "Confirmed with the clinical team that this gene has enough evidence to be green".
Created: 18 Dec 2018, 9:42 p.m.
DDG2P rating in original PAGE list: Probable.
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.161

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE Additional Gene List
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 1 617660
OMIM
604521
Clinvar variants
Variants in HAAO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: haao has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: HAAO was added gene: HAAO was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 28792876 Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 617660