Anophthalmia_Microphthalmia_Coloboma
Gene: TFAP2A

TFAP2A (transcription factor AP-2 alpha)
EnsemblGeneIds (GRCh38): ENSG00000137203
EnsemblGeneIds (GRCh37): ENSG00000137203
OMIM: 107580, Gene2Phenotype
TFAP2A is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Branchiooculofacial syndrome (BOFS) is characterised by branchial cleft sinus defects, ocular anomalies such as microphthalmia and lacrimal duct obstruction, a dysmorphic facial appearance including cleft or pseudocleft lip/palate, and autosomal dominant inheritance. Although anomalies of the external and middle ear frequently cause conductive hearing loss in BOFS, severe to profound sensorineural hearing loss due to inner ear anomalies has rarely been reported.

Multiple families reported.
Created: 28 Dec 2020, 8:05 a.m. | Last Modified: 28 Dec 2020, 8:05 a.m.

Panel Version: 0.168

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchiooculofacial syndrome, MIM# 113620

Publications

Created: 28 Dec 2020, 8:05 a.m.
Last Modified: 28 Dec 2020, 8:05 a.m.
Panel version: 0.168

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Branchiooculofacial syndrome, MIM# 113620

OMIM

107580

Clinvar variants

Variants in TFAP2A

Penetrance

None

Publications

Panels with this gene