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Deafness_IsolatedAndComplex
Gene: HAAO

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 33942433: three additional families.
Created: 9 May 2022, 10:19 p.m. | Last Modified: 9 May 2022, 10:19 p.m.

Panel Version: 1.130

Two unrelated families described with bi-allelic variants in this gene and a multiple congenital anomalies disorder, including deafness. Functional data.
Sources: Expert list
Created: 31 Dec 2019, 6:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 31 Dec 2019, 6:55 a.m.

Panel version: 1.130

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

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

OMIM

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

31 Dec 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).

31 Dec 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).

31 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: haao has been classified as Amber List (Moderate Evidence).

31 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: haao has been classified as Amber List (Moderate Evidence).

31 Dec 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 Deafness_MelbourneGenomics_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 AMBER