Cataracts

Gene: PITX2

Red List (low evidence)

PITX2 (paired like homeodomain 2)
EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 15 panels

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Not associated with cataract.
Created: 7 Jun 2016, 1:17 p.m.

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

Associated with Axenfeld-Reiger sysndrome, cataracts not usually described (1 member of a family in Xia et al, 2004). Mutations in PITX3 asociated with cataracts with ASD.
Created: 25 May 2016, 8:11 a.m.

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

Phenotypes
Cataracts

Publications

  • Xia et al (2004) J Med Genet 41:e129

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

Ellen McDonagh (Genomics England Curator)

I don't know

Is on the Manchester congenital cataracts gene panel. It is a confirmed gene for several disorders in G2P and associations in OMIM, though unsure whether these include a cataract phenotype.
Created: 25 Apr 2016, 9:52 a.m.

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

Phenotypes
Peters anomaly MIMID; Iridogoniodysgenesis type 2; Axenfeld-Rieger syndrome, type 1; Ring dermoid of cornea

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cataracts
OMIM
601542
Clinvar variants
Variants in PITX2
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

PITX2 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PITX2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services