Bilateral microtia

Gene: HOXA2

Green List (high evidence)

Mouse models are compelling, so this should be green.

Created: 3 Apr 2016, 2:31 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
dominant bilateral microtia; recessive family also reported

Publications

• 23775976
• 23775976

Green List (high evidence)

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

• PMID:10230789
• 1358459
• 16902088
• 18394579
• 23775976
• 9367425

Red List (low evidence)

Comment on list classification: Only one family with AR and one family with AD inheritance to date. Need further evidence before diagnostic

Created: 4 Feb 2016, 10:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

• 23775976