Deafness and congenital structural abnormalities

Gene: OTX2

Comment when marking as ready: Associated with phenotypes in OMIM and with Microphthalmia, syndromic 5 610125 in G2P / DD. At least eleven variants reported.

Created: 14 Sep 2016, 11:48 a.m.

Comment on phenotypes: Also associated with Pituitary hormone deficiency, combined, 6 613986

Created: 14 Sep 2016, 11:45 a.m.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Agnathia-holoprosencephaly-situs inversus syndrome; Otocephaly-Dysgnathia Complex;

Publications

• 26155468
• 24167467
• 23610864
• 23055936
• 22577225

Variants in this GENE are reported as part of current diagnostic practice

Comment on list classification: Green gene on the Familial hemifacial microsomia (Version 0.148) gene panel which was combined to create this panel.

Created: 14 Oct 2016, 1:34 p.m.

Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.

Created: 12 Sep 2016, 2:59 p.m.

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 bilateral; Anophthalmia, clinical, unilateral or bilateral; Coloboma; Microcornea; Cataract; Retinal dystrophy; Optic nerve hypoplasia or agenesis; Cleft palate (in some patients); Small penis (in some patients); Cryptorchidism (in some patients); Joint laxity; Developmental delay; Hypotonia; Seizures; Corpus 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)]; #613986:Pituitary hormone deficiency, combined, 6 [Short stature; Pituitary hypoplasia; Ectopic posterior pituitary; Pituitary hormone deficiencies]

Publications

• PMID:10490024
• 10490025
• 10935548
• 12663655
• 1353865
• 14625556
• 15557469
• 15846561
• 16256739
• 16712695
• 18385377
• 18628516
• 18728160
• 18781617
• 18854396
• 19956411
• 19965921
• 20396904
• 22577225
• 24167467
• 25293953
• 7901323
• 7959790
• 8826432
• 9174161

Red List (low evidence)

Phenotypes
CAUSES OTOCEPHALY DYSGNATHIA SYNDROME