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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
  3. HAAO
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Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic

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

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: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.180

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 33942433: three additional families.
Created: 9 May 2022, 10:17 p.m. | Last Modified: 9 May 2022, 10:17 p.m.
Panel Version: 0.112
Two unrelated individuals, functional data.
Sources: Expert list
Created: 28 Nov 2019, 5:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 28 Nov 2019, 5:50 a.m.

Panel version: 0.112

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660
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

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Nov 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HAAO was added gene: HAAO was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list 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 Review for gene: HAAO was set to GREEN