Hypogonadotropic hypogonadism
Gene: SOX2Comment when marking as ready: Associated with phenotype 206900 in OMIM and G2P. Found in 3/4 sources for 206900. One reviewer recommends Green. At least six cases with different terminating SOX2 variants have features of IHH within OMIM 206900.
Created: 14 Oct 2016, 10:17 a.m.
Associated with hypogonadotrophic hypogonadism as well as combined pituitary hormone deficiencies.Created: 24 May 2016, 12:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia syndromic type 3, Optic nerve hypoplasia and abnormalities of the central nervous system, 206900
28th Oct 2016: This panel was revised after external expert review and internal discussion. For several genes that have been shown to contribute to the disorder in a digenic/polygenic manner, the decision was made to only include genes as green if biallelic variants had been reported independently from other genes. Genes with a monoallelic mechanism, that have been shown in some studies in conjunction with variants in other genes, were made red as monoallelic variants in these genes may not provide a complete diagnosis.
This gene has been classified as Green List (High Evidence).
Phenotypes for SOX2 were set to Microphthalmia syndromic type 3, Optic nerve hypoplasia and abnormalities of the central nervous system, 206900
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
SOX2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Emory Genetics Laboratory,Expert list,Other,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene SOX2 were set to Microphthalmia syndromic type 3, Optic nerve hypoplasia and abnormalities of the central nervous system, 206900
This proposed gene was validated and added to this panel
SOX2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:
SOX2 was created by mdattani