OTX2

orthodenticle homeobox 2
OMIM: 600037
PanelMode of inheritanceDetails
7 panels
R-numbers: R145
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
GH, TSH, ACTH, LH, FSH deficiency, Anophthalmia Retinal dystrophy, normal or hypoplastic anterior pituitary, ectopic posterior pituitary, Pituitary hormone deficiency, combined, 6, 613986
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MICROPHTHALMIA SYNDROMIC TYPE 5 610125
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MICROPHTHALMIA SYNDROMIC TYPE 5
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MICROPHTHALMIA SYNDROMIC TYPE 5 (MCOPS5)
R-numbers: R159
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pituitary hormone deficiency, combined, 6 (613986), Microphthalmia, syndromic 5 (610125)
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Microphthalmia, syndromic 5, 610125, early onset retinal dystrophy, autosomal-dominant pattern dystrophy of the retinal pigment epithelium, Retinal Dystrophy, Eye Disorders
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
severe, bilateral cases, OTX2-Related Syndromic Microphthalmia, Microphthalmia, syndromic 5, 610125