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Deafness_IsolatedAndComplex

Gene: HOXA2

Green List (high evidence)

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

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

History Filter Activity

30 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxa2 has been classified as Green List (High Evidence).

30 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HOXA2 were changed from to Microtia with or without hearing impairment, MIM# 612290

30 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HOXA2 were set to

30 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HOXA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HOXA2 was added gene: HOXA2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: HOXA2 was set to Unknown