IUGR and IGF abnormalities
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
2 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Microcephaly, bilateral anopthalmia, developmental delay, cleft palate
- OMIM
- 600037
- Clinvar variants
- Variants in OTX2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- Anophthalmia or microphthalmia
- Monogenic short stature
- Deafness and congenital structural abnormalities
- Congenital hypothyroidism
- Early onset or syndromic epilepsy
- Pituitary hormone deficiency
- Ocular coloboma
- DDG2P
- Bilateral congenital or childhood onset cataracts
- IUGR and IGF abnormalities
- Retinal disorders
- Monogenic hearing loss
- Glaucoma (developmental)
History Filter Activity
2 May 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
2 May 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
2 May 2016, Gel status: 0
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for OTX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Oct 2015, Gel status: 0
Added New Source
Philip Murray (University of Manchester)OTX2 was added to IUGR and IGF abnormalitiespanel. Sources: Literature
25 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)OTX2 was created by PhilMurray