Bilateral congenital or childhood onset cataracts

Gene: TFAP2A

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

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.