Bilateral congenital or childhood onset cataracts
Gene: PITX2EnsemblGeneIds (GRCh38): ENSG00000164093
EnsemblGeneIds (GRCh37): ENSG00000164093
OMIM: 601542, Gene2Phenotype
PITX2 is in 16 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)
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)
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
-
- DDG2P
- Intellectual disability
- 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
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
GEL ()PITX2 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()PITX2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services