Deafness_IsolatedAndComplex
Gene: HOXA2

HOXA2 (homeobox A2)
EnsemblGeneIds (GRCh38): ENSG00000105996
EnsemblGeneIds (GRCh37): ENSG00000105996
OMIM: 604685, Gene2Phenotype
HOXA2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six families reported with mono-allelic LOF variants in this gene and microtia. Only a single family with homozygous missense, so evidence for association with bi-allelic variants is limited.
Created: 30 Sep 2020, 12:12 a.m. | Last Modified: 30 Sep 2020, 12:12 a.m.

Panel Version: 0.482

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Microtia with or without hearing impairment, MIM# 612290

Publications

Created: 30 Sep 2020, 12:12 a.m.
Last Modified: 30 Sep 2020, 12:12 a.m.
Panel version: 0.485

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Microtia with or without hearing impairment, MIM# 612290

OMIM

604685

Clinvar variants

Variants in HOXA2

Penetrance

None

Publications

Panels with this gene