Pituitary hormone deficiency
Gene: SOX2Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC, Dattani MT.J Clin Invest. 2006 Sep;116(9):2442-55. doi: 10.1172/JCI28658. Epub 2006 Aug 24.PMID:16932809Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SEVERE EYE DEFECTS, DIPLEGIA, HYPOGONADOTROPHIC HYPOGONADISM
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, 12:05 p.m.
Comment on list classification: Promoted from red to green. The phenotypes for SOX2 are confirmed in both OMIM and Gene2Phenotype. It is a green gene in the IUGR and IGF abnormalities panel (Version 1.25) and Hypogonadotropic hypogonadism panel (Version 1.15). There are >3 unrelated cases of patients with the described phenotypes who have variants in the SOX2 gene. A mouse model (PMID: 16932809) with heterozygous Sox2 knocked out developed combined pituitary hormone deficiency.Created: 10 Dec 2018, 2:35 p.m.
Phenotypes for gene: SOX2 were changed from Microphthalmia, syndromic 3 (206900) to Microphthalmia, syndromic 3, OMIM:206900; anophthalmia/microphthalmia-esophageal atresia syndrome, MONDO:0008799
Ivone Leong: Comment on list classification
Gene: sox2 has been classified as Green List (High Evidence).
Gene: sox2 has been classified as Green List (High Evidence).
Publications for gene: SOX2 were set to
gene: SOX2 was added gene: SOX2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,Radboud University Medical Center Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 (206900)