Deafness and congenital structural abnormalities
Gene: OTX2Comment 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 613986Created: 14 Sep 2016, 11:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Agnathia-holoprosencephaly-situs inversus syndrome; Otocephaly-Dysgnathia Complex;
Publications
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.
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
Phenotypes
CAUSES OTOCEPHALY DYSGNATHIA SYNDROME
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for OTX2 were set to 26155468; 24167467; 23610864; 23055936; 22577225 ;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
Phenotypes for OTX2 were set to Bilateral Microtia; Microphthalmia, syndromic 5;Agnathia-holoprosencephaly-situs inversus syndrome; Otocephaly-Dysgnathia Complex
OTX2 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory OTX2 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services OTX2 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen OTX2 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN OTX2 was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Green Model of inheritance for gene OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
OTX2 was created by sleigh
OTX2 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red