Corneal abnormalities

Gene: PITX2

Green List (high evidence)

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

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and should be promoted to green.
Created: 22 Feb 2017, 10:06 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Anterior segment dysgenesis 4 137600 AD
  • Axenfeld-Rieger syndrome, type 1 180500 AD
  • Ring dermoid of cornea 180550
OMIM
601542
Clinvar variants
Variants in PITX2
Penetrance
Complete
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PITX2 were set to Anterior segment dysgenesis 4 137600 AD; Axenfeld-Rieger syndrome, type 1 180500 AD; Ring dermoid of cornea 180550

22 Feb 2017, 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 ()

PITX2 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

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