Genes in panel
Regions in panel
Prev Next

Mendeliome

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

1 review

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

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
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

25 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM 113620

25 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TFAP2A were set to

25 May 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: TFAP2A was changed from to Other

25 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TFAP2A was added gene: TFAP2A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TFAP2A was set to Unknown