TFAP2A gene related symptoms and diseases
All the information presented here about the TFAP2A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TFAP2A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Overfolded helix | Very Common - Between 80% and 100% cases |
| Median cleft lip | Very Common - Between 80% and 100% cases |
| Aplasia cutis congenita | Very Common - Between 80% and 100% cases |
| Hamartoma | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TFAP2A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Non-midline cleft lip
- Premature graying of hair
- Supernumerary nipple
- Preauricular pit
- Preaxial hand polydactyly
- Unilateral renal agenesis
- Anophthalmia
- Proximal placement of thumb
And 104 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TFAP2A gene
Here you will find a list of rare diseases related to the TFAP2A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BRANCHIO-OCULO-FACIAL SYNDROME
Alternate names
BRANCHIO-OCULO-FACIAL SYNDROME Is also known as bofs, hemangiomatous branchial clefts-lip pseudocleft syndrome, branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging, bof syndrome, lip pseudocleft-hemangiomatous branchial cyst syndrome
Description
Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
Most common symptoms of BRANCHIO-OCULO-FACIAL SYNDROME
- Seizures
- Short stature
- Hearing impairment
- Microcephaly
- Growth delay
More info about BRANCHIO-OCULO-FACIAL SYNDROME
Search interest in TFAP2A
Potential gene panels for TFAP2A gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel United States.
Branchio-oculo-facial syndrome Panel
United States.
By Center for Human Genetics, Inc
This panel specifically test the TFAP2A gene.
More info about this panel United States.
Branchiooculofacial Syndrome - TFAP2A Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the TFAP2A gene.
More info about this panel United States.
Anophthalmia/microphthalmia Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2
More info about this panel Denmark.
Renal Cystic Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6
More info about this panel United States.
TFAP2A. Secuenciación completa Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TFAP2A gene.
More info about this panel Spain.
Branchiooculofacial Syndrome (sequence analysis of TFAP2A gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TFAP2A gene.
More info about this panel Portugal.
Syndromic deafness (NGS panel for 62 genes) Panel
Portugal.
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Portugal.
Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel
Portugal.
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panel Portugal.
Branchio-Oculo-Facial Syndrome (BOFS) via TFAP2A Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TFAP2A gene.
More info about this panel United States.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
Germany.
By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1
More info about this panel Germany.
Branchiooculofacial syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TFAP2A gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Syndromic Hearing Loss Panel Panel
Germany.
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panel Germany.
Renal Dysplasia, Renal Agenesia, CAKUT Panel Panel
Germany.
By CeGaT GmbH Renal Dysplasia, Renal Agenesia, CAKUT Panel that also includes the following genes: ROBO2 SDCCAG8 BMP4 SIX1 SIX5 SPRY1 TBX18 HNF1B TFAP2A UPK3A
More info about this panel Germany.
Branchiootorenal Syndrome Panel Panel
Germany.
By CeGaT GmbH Branchiootorenal Syndrome Panel that also includes the following genes: SIX1 SIX5 TFAP2A EYA1
More info about this panel Germany.
TFAP2A Gene Sequencing Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the TFAP2A gene.
More info about this panel Colombia.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
TFAP2A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TFAP2A gene.
More info about this panel United States.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Branchio-Oto-Renal (BOR) Syndrome Panel Panel
Finland.
By Blueprint Genetics Branchio-Oto-Renal (BOR) Syndrome Panel that also includes the following genes: SIX1 SIX5 TFAP2A EYA1
More info about this panel Finland.
Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panel Finland.
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
Finland.
By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN
More info about this panel Finland.
Cataract Panel Panel
Finland.
By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1
More info about this panel Finland.
Branchiooculofacial syndrome Panel
Spain.
By Bioarray
This panel specifically test the TFAP2A gene.
More info about this panel Spain.
BOF SYNDROME (BRANCHIO-OCULO-FACIAL) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the TFAP2A gene.
More info about this panel Spain.
Branchio-Oculo-Facial Syndrome , Sequencing TFAP2A Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TFAP2A gene.
More info about this panel Spain.
Branchiooculofacial Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TFAP2A gene.
More info about this panel Canada.
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