Bilateral congenital or childhood onset cataracts
Gene: PITX3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Anterior segment mesenchymal dysgenesis, 107250; Cataract, 610623
Publications
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for cataract autosomal dominant and cataract posterior polar type 4 (CTPP4).Created: 25 Apr 2016, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cataract posterior polar 4; Anterior segment mesenchymal dysgenesis; cataract autosomal dominant; cataract posterior polar type 4 (CTPP4); Cataract 11, multiple types; Cataract 11, syndromic
This gene has been classified as Green List (High Evidence).
Publications for PITX3 were set to Berry et al (2004) J. Med. Genet. 41: e109
Phenotypes for PITX3 were set to Anterior segment mesenchymal dysgenesis, 107250;Cataract posterior polar 4; Anterior segment mesenchymal dysgenesis; cataract autosomal dominant; cataract posterior polar type 4 (CTPP4); Cataract 11, multiple types; Cataract 11, syndromic
Mode of inheritance for PITX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
PITX3 was added to Cataractspanel. Sources: UKGTN
PITX3 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen