Deafness and congenital structural abnormalities
Gene: HOXA2
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity
Other
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. MOI reported as both biallelic and monozygous, three variants reported one as a homozygote and two as autosomal dominant heterozygotes, Animal studies in support of involvement of HOXA2 in relevant development (PMID 9367425).Created: 15 Sep 2016, 1:05 p.m.
Comment on list classification: A new report in a third family provides further evidence - PMID: 27503514 - a heterozygous truncating nonsense variant was identified in a 5-generation family with isolated bilateral microtia. Segregated in all affected individuals and was absent in public databases.Created: 26 Oct 2016, 7:49 a.m.
Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:58 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
#612290:?Microtia, hearing impairment, and cleft palate (AR) [Microtia; Severe narrowing of cartilagenous auditory canal; Near-stenosis of bony portion of auditory canal; Malformed ossicular chain; Incomplete atretic plate; Hearing 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)]
Publications
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
Publications for HOXA2 were set to 18394579; 23775976; 10230789; 1358459; 16902088; 9367425;27503514
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for HOXA2 were set to 18394579; 23775976;10230789; 1358459;16902088; 9367425
Phenotypes for HOXA2 were set to Microtia, Hearing Impairment, and Cleft Palate; 612290; Microtia with or without hearing impairment (AD) 612290 AD, AR; Microtia, hearing impairment, and cleft palate (AR) 612290;dominant bilateral microtia; recessive family also reported
This gene has been classified as Amber List (Moderate Evidence).
HOXA2 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Green
HOXA2 was created by sleigh
HOXA2 was added to Deafness and congenital structural abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Expert Review Red