Pituitary hormone deficiency

Gene: OTX2

Green List (high evidence)

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

2 reviews

Eleanor Williams (Genomics England Curator)

Additional evidence - PMID: 32277752 - Bando et al 2020 report defects in the pituitary glands, mandibles and eyes of otx2b mutant fish that model the features of patients with OTX2 mutations. Otx2b deficiency causes reduced cell proliferation and increased apoptosis, resulting in organ hypoplasia.
Created: 30 Jul 2020, 1:58 p.m. | Last Modified: 30 Jul 2020, 1:58 p.m.
Panel Version: 2.4

Publications

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 12:03 p.m.
OTX2 is confirmed to be associated with combined pituitary hormone deficiency 6 in OMIM but not on Gene2Phenotype. OTX2 is a green gene on the Congenital hypothyroidism panel (Version 1.4) and Anophthalmia or microphthalmia panel (Version 1.15). There are >3 reported cases of unrelated patients with combined pituitary hormone deficiency who also have eye abnormalities (i.e. microphthalmia) with variants in OTX2.
Created: 7 Dec 2018, 4:22 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Pituitary hormone deficiency, combined, 6 (613986)
  • Microphthalmia, syndromic 5 (610125)
OMIM
600037
Clinvar variants
Variants in OTX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: OTX2 is confirmed to be associ

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: otx2 has been classified as Green List (High Evidence).

7 Dec 2018, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: OTX2 were set to

7 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: otx2 has been classified as Green List (High Evidence).

7 Dec 2018, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: OTX2 was added gene: OTX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125)