Monogenic short stature
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
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- AXENFELD-RIEGER SYNDROME
- OMIM
- 601542
- Clinvar variants
- Variants in PITX2
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Anophthalmia or microphthalmia
- Pituitary hormone deficiency
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Fetal anomalies
- Corneal abnormalities
- Retinal disorders
- Monogenic hearing loss
- Structural eye disease
- IUGR and IGF abnormalities
- DDG2P
- Glaucoma (developmental)
- Sporadic aniridia
- Monogenic short stature
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: PITX2 was added gene: PITX2 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PITX2 were set to AXENFELD-RIEGER SYNDROME