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  3. TFAP2A
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Structural eye disease

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Milunsky five families. Gestri at least two families plus zebrafish model
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction); 113620

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Milunsky five families. Gestri at least two families plus zebrafish model
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Branchiooculofacial syndrome , 113620
  • Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620
OMIM
107580
Clinvar variants
Variants in TFAP2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 3

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TFAP2A. Source Expert Review Green was added to TFAP2A. Added phenotypes Branchiooculofacial syndrome (includes ocular anomalies such as microphthalmia and lacrimal duct obstruction), 113620 for gene: TFAP2A Publications for gene TFAP2A were changed from 10767004, 18423521 to 19685247; 18423521 Rating Changed from Red List (low evidence) to Green List (high evidence)

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TFAP2A was added gene: TFAP2A was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TFAP2A were set to 10767004, 18423521 Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome , 113620