Monogenic hearing loss
Gene: HOXA2
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)]
Comment on list classification: Good evidence from OMIM and expertCreated: 1 Feb 2016, 4:56 p.m.
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
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)
Publications for HOXA2 were set to PMID:10230789; 1358459; 16902088; 18394579; 23775976; 9367425
This gene has been classified as Green List (High Evidence).
Mode of inheritance for HOXA2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene HOXA2 was changed to BIALLELIC, autosomal or pseudoautosomal
HOXA2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert
HOXA2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert