Sporadic aniridia
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Wessex and West Midlands GLH
- Phenotypes
-
- Aniridia, MONDO:0019172
- OMIM
- 601542
- Clinvar variants
- Variants in PITX2
- Penetrance
- None
- Publications
- 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
3 Mar 2021, Gel status: 2
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PITX2 were changed from to Aniridia, MONDO:0019172
20 Mar 2019, Gel status: 2
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PITX2 were set to
20 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PITX2 was added gene: PITX2 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Amber Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted