Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: TFAP2A

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

2 reviews

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

No clear genotype-phenotype correlation.

Complete penetrance but expressivity is variable (PMID: 23578821).

Most missense mutations occur within exon 4 and 5 in the DNA-binding and the disease mechanism have been shown to be dominant-negative (PMID: 23578821).

Some NMD-predicted variants reported in literatures (PMID: 21204207;21728810;21539471), indicated a likely LoF mechanism for PTCs.
Created: 25 May 2020, 5:18 a.m. | Last Modified: 25 May 2020, 5:18 a.m.

Panel Version: 0.2890

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchiooculofacial syndrome, MIM 113620

Publications

Mode of pathogenicity
Other

Created: 25 May 2020, 5:18 a.m.
Last Modified: 25 May 2020, 5:18 a.m.
Panel version: Imported from Mendeliome panel version 0.2890

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

CAKUT is a feature of the phenotype.
Created: 16 Jan 2020, 9:54 a.m. | Last Modified: 16 Jan 2020, 9:54 a.m.

Panel Version: 0.61

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchiooculofacial syndrome, MIM# 113620

Created: 16 Jan 2020, 9:54 a.m.
Last Modified: 16 Jan 2020, 9:54 a.m.
Panel version: 0.61

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Branchiooculofacial syndrome, MIM# 113620

OMIM

107580

Clinvar variants

Variants in TFAP2A

Penetrance

None

Panels with this gene