Bilateral microtia
Gene: HOXA2
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
Comment on list classification: Only one family with AR and one family with AD inheritance to date. Need further evidence before diagnosticCreated: 4 Feb 2016, 10:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
This gene has been classified as Red List (Low Evidence).
Phenotypes for HOXA2 were set to Microtia, Hearing Impairment, and Cleft Palate;612290
This gene has been classified as Red List (Low Evidence).
Publications for HOXA2 were set to 18394579; 23775976
Publications for HOXA2 were set to 18394579; 23775976; 23775976
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).
HOXA2 was added to Bilateral Microtiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list
HOXA2 was added to Bilateral Microtiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list