Osteogenesis imperfecta
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
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Proportionate Short Stature/Small for Gestational Age
- Tags
- OMIM
- 601542
- Clinvar variants
- Variants in PITX2
- Penetrance
- Complete
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Pituitary hormone deficiency
- Osteogenesis imperfecta
- Monogenic short stature
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Corneal abnormalities
- Fetal anomalies
- Intellectual disability
- Monogenic hearing loss
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- IUGR and IGF abnormalities
- Glaucoma (developmental)
- DDG2P
- Retinal disorders
- Sporadic aniridia
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: PITX2.
14 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PITX2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory