Monogenic hearing loss
Gene: HOXA2EnsemblGeneIds (GRCh38): ENSG00000105996
EnsemblGeneIds (GRCh37): ENSG00000105996
OMIM: 604685, Gene2Phenotype
HOXA2 is in 4 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 expertCreated: 1 Feb 2016, 4:56 p.m.
Maria Bitner-Glindzicz (UCL)
can cause microtia with or without hearing loss. Would want to know about a Tier 1 variant in this geneCreated: 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
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)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for HOXA2 were set to PMID:10230789; 1358459; 16902088; 18394579; 23775976; 9367425
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for HOXA2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene HOXA2 was changed to BIALLELIC, autosomal or pseudoautosomal
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
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