Monogenic short stature
Gene: OTX2
OTX2 (orthodenticle homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 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
-
- Microcephaly, bilateral anopthalmia, developmental delay, cleft palate
- OMIM
- 600037
- Clinvar variants
- Variants in OTX2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
- Deafness and congenital structural abnormalities
- Intellectual disability
- DDG2P
- Monogenic hearing loss
- Ocular coloboma
- Pituitary hormone deficiency
- Early onset or syndromic epilepsy
- Structural eye disease
- Retinal disorders
- Monogenic short stature
- IUGR and IGF abnormalities
- Congenital hypothyroidism
- Glaucoma (developmental)
- Fetal anomalies
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: OTX2 was added gene: OTX2 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OTX2 were set to 18728160 Phenotypes for gene: OTX2 were set to Microcephaly, bilateral anopthalmia, developmental delay, cleft palate