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
-
- Monogenic hearing loss
- Anophthalmia or microphthalmia
- DDG2P
- Corneal abnormalities
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Pituitary hormone deficiency
- Sporadic aniridia
- Retinal disorders
- Osteogenesis imperfecta
- IUGR and IGF abnormalities
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Monogenic short stature
- Glaucoma (developmental)
- Structural eye disease
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