Genomics England
GMS Panels
Panels
Genes and Entities

OTX2

orthodenticle homeobox 2
OMIM: 600037
PanelMode of inheritanceDetails
7 panels
Green
in Congenital hypothyroidism
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 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MICROPHTHALMIA SYNDROMIC TYPE 5 610125
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MICROPHTHALMIA SYNDROMIC TYPE 5
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MICROPHTHALMIA SYNDROMIC TYPE 5 (MCOPS5)
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pituitary hormone deficiency, combined, 6 (613986), Microphthalmia, syndromic 5 (610125)
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.0
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
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
severe, bilateral cases, OTX2-Related Syndromic Microphthalmia, Microphthalmia, syndromic 5, 610125