Pituitary hormone deficiency
Gene: OTX2Additional 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
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.
Ivone Leong: OTX2 is confirmed to be associ
Gene: otx2 has been classified as Green List (High Evidence).
Publications for gene: OTX2 were set to
Gene: otx2 has been classified as Green List (High Evidence).
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)