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| CAKUT v1.63 | TFAP2A | Catherine Snow Publications for gene: TFAP2A were set to 21204207; 31160420 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.62 | TFAP2A | Catherine Snow Publications for gene: TFAP2A were set to 21204207; 31160420 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.62 | TFAP2A | Catherine Snow Publications for gene: TFAP2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.61 | TFAP2A | Catherine Snow Classified gene: TFAP2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.61 | TFAP2A | Catherine Snow Added comment: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.61 | TFAP2A | Catherine Snow Gene: tfap2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | TFAP2A |
Zornitza Stark 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 Added comment: CAKUT is a feature of the phenotype. Sources: Expert list |
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