Monogenic hearing loss
Gene: OTX2EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 16 panels
1 review
Jun Shen (Harvard Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#610125:Retinal dystrophy, early-onset, with or without pituitary dysfunction[Short stature (in some patients); Microphthalmia, unilateral or bilateralAnophthalmia, clinical, unilateral or bilateralColobomaMicrocorneaCataractRetinal dystrophyOptic nerve hypoplasia or agenesis; Cleft palate (in some patients); Small penis (in some patients); Cryptorchidism (in some patients); Joint laxity; Developmental delayHypotoniaSeizuresCorpus callosum, agenesis of (in some patients)Pituitary hypoplasia (in some patients)Ectopic posterior pituitary (in some patients); Pituitary hypoplasia (in some patients)Pituitary hormone deficiencies (in some patients); Caused by mutation in the homolog of the drosophila orthodenticle 2 gene (OTX2,)]; #613986:Pituitary hormone deficiency, combined, 6[Short stature; Pituitary hypoplasiaEctopic posterior pituitary; Pituitary hormone deficiencies; Caused by mutation in the homolog of the drosophila orthodenticle 2 gene (OTX2,)]
Publications
Details
- Sources
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- Expert
- OMIM
- 600037
- Clinvar variants
- Variants in OTX2
- Penetrance
- Complete
- Panels with this gene
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- Deafness and congenital structural abnormalities
- Early onset or syndromic epilepsy
- Ocular coloboma
- Structural eye disease
- Monogenic short stature
- Intellectual disability
- IUGR and IGF abnormalities
- Monogenic hearing loss
- DDG2P
- Congenital hypothyroidism
- Retinal disorders
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Fetal anomalies
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)OTX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert