Deafness and congenital structural abnormalities
Gene: HOXA2

HOXA2 (homeobox A2)
EnsemblGeneIds (GRCh38): ENSG00000105996
EnsemblGeneIds (GRCh37): ENSG00000105996
OMIM: 604685, Gene2Phenotype
HOXA2 is in 4 panels

6 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Mode of pathogenicity
Other

Created: 17 Oct 2016, 12:36 p.m.

Panel version: 0.115

Sarah Leigh (Genomics England Curator)

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.

Created: 15 Sep 2016, 1:05 p.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.108

Ana Beleza (Bristol Regional Genetics Service)

Phenotypes
Microtia with or without hearing impairment (AD); Microtia, hearing impairment, and cleft palate

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Sep 2016, 9:34 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.33

Ellen McDonagh (Genomics England Curator)

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.

Created: 12 Sep 2016, 2:58 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.83

Maria Bitner-Glindzicz (UCL)

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

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

Panel version: Imported from "Bilateral microtia" panel version 0

Jun Shen (Harvard Medical School)

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

Created: 9 Feb 2016, 5:16 p.m.

Panel version: Imported from "Bilateral microtia" panel version 1.0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Expert list

Phenotypes

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

OMIM

604685

Clinvar variants

Variants in HOXA2

Penetrance

Complete

Publications

Panels with this gene