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Hearing loss

Gene: OTX2

Red List (low evidence)

OTX2 (orthodenticle homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 17 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

OTX2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert