Bilateral congenital or childhood onset cataracts
Gene: PITX3

PITX3 (paired like homeodomain 3)
EnsemblGeneIds (GRCh38): ENSG00000107859
EnsemblGeneIds (GRCh37): ENSG00000107859
OMIM: 602669, Gene2Phenotype
PITX3 is in 10 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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

Phenotypes
Anterior segment mesenchymal dysgenesis, 107250; Cataract, 610623

Publications

Berry et al (2004) J. Med. Genet. 41: e109

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

Created: 14 Jun 2016, 8:28 a.m.

Panel version: 0.383

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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

Created: 25 Apr 2016, 9:54 a.m.

Panel version: 0.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

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

OMIM

602669

Clinvar variants

Variants in PITX3

Penetrance

Complete

Publications

Berry et al (2004) J. Med. Genet. 41: e109

Panels with this gene