Bilateral microtia

Gene: HOXA2

Red List (low evidence)

HOXA2 (homeobox A2)
EnsemblGeneIds (GRCh38): ENSG00000105996
EnsemblGeneIds (GRCh37): ENSG00000105996
OMIM: 604685, Gene2Phenotype
HOXA2 is in 3 panels

3 reviews

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

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

Richard Scott (Genomics England Curator)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Microtia, Hearing Impairment, and Cleft Palate
  • 612290
OMIM
604685
Clinvar variants
Variants in HOXA2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Feb 2016, Gel status: 1

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for HOXA2 were set to Microtia, Hearing Impairment, and Cleft Palate;612290

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for HOXA2 were set to 18394579; 23775976

4 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for HOXA2 were set to 18394579; 23775976; 23775976

4 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for HOXA2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HOXA2 was added to Bilateral Microtiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list

28 Apr 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HOXA2 was added to Bilateral Microtiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list