Cataracts

Gene: PITX3

Green List (high evidence)

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

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

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

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 PITX3 were set to Berry et al (2004) J. Med. Genet. 41: e109

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PITX3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

PITX3 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PITX3 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen