CAKUT
Gene: TFAP2AComment 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 developmentCreated: 29 Apr 2020, 1:35 p.m. | Last Modified: 29 Apr 2020, 1:35 p.m.
Panel Version: 1.61
CAKUT is a feature of the phenotype.
Sources: Expert listCreated: 16 Jan 2020, 4:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Branchiooculofacial syndrome, MIM# 113620
Publications for gene: TFAP2A were set to 21204207; 31160420
Publications for gene: TFAP2A were set to 21204207; 31160420
Publications for gene: TFAP2A were set to
Gene: tfap2a has been classified as Green List (High Evidence).
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