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CAKUT

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

Catherine Snow (Genomics England)

Comment on list classification: TFAP2A identified by expert review. Phenotype for the gene disease association is mainly branchial cleft sinus defects, ocular anomalies such as microphthalmia and lacrimal duct obstruction and a dysmorphic facial appearance including cleft or pseudocleft lip/palate. However PMID: 21204207 - Genotype-phenotype Analysis of the Branchio-Oculo-Facial Syndrome states that renal anomalies, including dysplasia, agenesis,multicystic kidneys, and vesicoureteral reflux was seen in 12/34; 35% who had variants mainly in exon 4 &5 of the TFAP2A gene. Functional evidence PMID: 31160420 demonstrates that TFAP2A is involved in kidney development
Created: 29 Apr 2020, 1:35 p.m. | Last Modified: 29 Apr 2020, 1:35 p.m.
Panel Version: 1.61
Created: 29 Apr 2020, 1:35 p.m.
Last Modified: 29 Apr 2020, 1:35 p.m.
Panel version: 1.61

Zornitza Stark (Australian Genomics)

Green List (high evidence)

CAKUT is a feature of the phenotype.
Sources: Expert list
Created: 16 Jan 2020, 4:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchiooculofacial syndrome, MIM# 113620

Created: 16 Jan 2020, 4:52 a.m.

Panel version: 1.41

Details

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

History Filter Activity

29 Apr 2020, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: TFAP2A were set to 21204207; 31160420

29 Apr 2020, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: TFAP2A were set to 21204207; 31160420

29 Apr 2020, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: TFAP2A were set to

29 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

16 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TFAP2A was added gene: TFAP2A was added to CAKUT. Sources: Expert list Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome, MIM# 113620 Review for gene: TFAP2A was set to GREEN