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  3. TFAP2A
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Clefting

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

Helen Brittain (Genomics England Curator)

Green List (high evidence)

De novo missense
Created: 26 May 2017, 7:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
BRANCHIOOCULOFACIAL SYNDROME; BOFS

Publications

Created: 26 May 2017, 7:39 a.m.

Panel version: 0.193

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • BRANCHIOOCULOFACIAL SYNDROME
  • BOFS
  • Cleft lip
OMIM
107580
Clinvar variants
Variants in TFAP2A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TFAP2A. Panel: Clefting Phenotypes for gene TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME, BOFS, Cleft lip

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TFAP2A was created by ellenmcdonagh

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TFAP2A was added to Cleftingpanel. Sources: Expert Review Green