Corneal abnormalities
Gene: PITX2
PITX2 (paired like homeodomain 2)
EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 16 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
-
- DDG2P
- Corneal abnormalities
- Monogenic short stature
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Sporadic aniridia
- IUGR and IGF abnormalities
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Anophthalmia or microphthalmia
- Intellectual disability
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