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Hearing loss

Gene: HOXA2

Green List (high evidence)

HOXA2 (homeobox A2)
EnsemblGeneIds (GRCh38): ENSG00000105996
EnsemblGeneIds (GRCh37): ENSG00000105996
OMIM: 604685, Gene2Phenotype
HOXA2 is in 3 panels

3 reviews

Jun Shen (Harvard Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#612290:?Microtia, hearing impairment, and cleft palate (AR)[MicrotiaSevere narrowing of cartilagenous auditory canalNear-stenosis of bony portion of auditory canalMalformed ossicular chainIncomplete atretic plateHearing loss, prelingual, severe to profound (affecting all frequencies)Severe narrowing of cartilagenous auditory canal (in homozygotes)Near-stenosis of bony portion of auditory canal (in homozygotes)Hearing loss, mixed, mild to severe (in heterozygotes); Cleft palate, partial (in homozygotes)]

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from OMIM and expert
Created: 1 Feb 2016, 4:56 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

can cause microtia with or without hearing loss. Would want to know about a Tier 1 variant in this gene
Created: 19 Oct 2015, 6:38 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Microtia, Hearing Impairment, and Cleft Palate
  • Microtia, Hearing Impairment, and Cleft Palate
  • #612290:?Microtia, hearing impairment, and cleft palate (AR)
OMIM
604685
Clinvar variants
Variants in HOXA2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HOXA2 were set to Microtia, Hearing Impairment, and Cleft Palate; Microtia, Hearing Impairment, and Cleft Palate; #612290:?Microtia, hearing impairment, and cleft palate (AR)

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HOXA2 were set to PMID:10230789; 1358459; 16902088; 18394579; 23775976; 9367425

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

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

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene HOXA2 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HOXA2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HOXA2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert