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Cataracts

Gene: TFAP2A

Green List (high evidence)

TFAP2A (transcription factor AP-2 alpha)
EnsemblGeneIds (GRCh38): ENSG00000137203
EnsemblGeneIds (GRCh37): ENSG00000137203
OMIM: 107580, Gene2Phenotype
TFAP2A is in 11 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

TFAP2A expressed in human and mouse lens. Knockout mouse has defects in lens development. Cataracts described in patients with BOF (Lin et al 1995, Am J Med Genet. 56(1):42_59 )
Created: 14 Jun 2016, 8:28 a.m.

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

Phenotypes
Branchiooculofacial syndrome

Publications

  • Gestri et al (2009) Hum Genet 126:791-803. Milunsky et al. 2008 Am J Hum Genet. 2 82(5):1171_1177. Reiber et al (2010) Am J Med Genet 152A:994-999.

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Gene and phenotype added from the Manchester congenital cataracts gene panel. It is a confirmed DD gene for Branchiooculofacial syndrome (which includes cataract as a phenotype). More than 3 unrelated cases reported in OMIM.
Created: 29 Apr 2016, 3:34 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Branchiooculofacial syndrome
OMIM
107580
Clinvar variants
Variants in TFAP2A
Penetrance
Complete
Publications
  • Gestri et al (2009) Hum Genet 126:791-803. Milunsky et al. 2008 Am J Hum Genet. 2 82(5):1171_1177. Reiber et al (2010) Am J Med Genet 152A:994-999.
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TFAP2A were set to Gestri et al (2009) Hum Genet 126:791-803. Milunsky et al. 2008 Am J Hum Genet. 2 82(5):1171_1177. Reiber et al (2010) Am J Med Genet 152A:994-999.

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TFAP2A was created by ellenmcdonagh

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TFAP2A was added to Cataractspanel. Sources: Expert list