Retinal disorders
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
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
cataract geneCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Eye Disorders
- OMIM
- 601542
- Clinvar variants
- Variants in PITX2
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- DDG2P
- Corneal abnormalities
- Monogenic short stature
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- 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
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PITX2.
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PITX2 was created by ellenmcdonagh
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PITX2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red