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  3. HAAO
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Miscellaneous Metabolic Disorders

Gene: HAAO

Green List (high evidence)
HAAO (3-hydroxyanthranilate 3,4-dioxygenase)
EnsemblGeneIds (GRCh38): ENSG00000162882
EnsemblGeneIds (GRCh37): ENSG00000162882
OMIM: 604521, Gene2Phenotype
HAAO is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 33942433: three additional families.
Created: 9 May 2022, 10:20 p.m. | Last Modified: 9 May 2022, 10:20 p.m.
Panel Version: 1.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660

Publications

Created: 9 May 2022, 10:20 p.m.
Last Modified: 9 May 2022, 10:20 p.m.
Panel version: 1.15

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

2 unrelated cases reported with homozygous variants from consanguineous families, and a supporting mouse model.
Sources: NHS GMS
Created: 5 Feb 2021, 1:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; NAD deficiency

Publications

Created: 5 Feb 2021, 1:36 a.m.

Panel version: 0.180

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660
  • NAD deficiency
OMIM
604521
Clinvar variants
Variants in HAAO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HAAO were set to 28792876

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HAAO was added gene: HAAO was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS 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 MIM#617660; NAD deficiency Review for gene: HAAO was set to GREEN