Hypogonadotropic hypogonadism
Gene: SOX2EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 18 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment 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.
Mehul Dattani (UCL Institute of Child Health)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Other
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Microphthalmia syndromic type 3, Optic nerve hypoplasia and abnormalities of the central nervous system, 206900
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hypogonadotropic hypogonadism (GMS)
- Retinal disorders
- DDG2P
- Ocular coloboma
- Clefting
- Monogenic short stature
- Familial Hirschsprung Disease
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
- Intellectual disability
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SOX2 were set to Microphthalmia syndromic type 3, Optic nerve hypoplasia and abnormalities of the central nervous system, 206900
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)SOX2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources: Emory Genetics Laboratory,Expert list,Other,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene SOX2 were set to Microphthalmia syndromic type 3, Optic nerve hypoplasia and abnormalities of the central nervous system, 206900
Approved Gene
Sarah Leigh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Mehul Dattani (UCL Institute of Child Health)SOX2 was added to Idiopathic hypogonadotropic hypogonadismpanel. Sources:
Created
Mehul Dattani (UCL Institute of Child Health)SOX2 was created by mdattani