Pituitary hormone deficiency
Gene: OTX2

OTX2 (orthodenticle homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000165588
EnsemblGeneIds (GRCh37): ENSG00000165588
OMIM: 600037, Gene2Phenotype
OTX2 is in 16 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

32277752

Created: 30 Jul 2020, 1:58 p.m.
Last Modified: 30 Jul 2020, 1:58 p.m.
Panel version: 2.4

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.

Created: 7 Dec 2018, 11:10 a.m.

Panel version: 0.71

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