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  3. TFAP2A
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Fetal anomalies

Gene: TFAP2A

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

2 reviews

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: Imported from Anophthalmia_Microphthalmia_Coloboma panel version 0.168

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

no ID as part of phenotype.
Created: 10 Dec 2019, 5:28 a.m. | Last Modified: 10 Dec 2019, 5:28 a.m.
Panel Version: 0.1141

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchiooculofacial syndrome; OMIM #113620

Created: 10 Dec 2019, 5:28 a.m.
Last Modified: 10 Dec 2019, 5:28 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1141

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Branchiooculofacial syndrome, MIM# 113620
OMIM
107580
Clinvar variants
Variants in TFAP2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tfap2a has been classified as Green List (High Evidence).

23 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TFAP2A were changed from BRANCHIOOCULOFACIAL SYNDROME to Branchiooculofacial syndrome, MIM# 113620

23 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TFAP2A were set to

23 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TFAP2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TFAP2A was added gene: TFAP2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME