IUGR and IGF abnormalities
Gene: SOX2
SOX2 (SRY-box 2)
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 18 panels
2 reviews
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- Complete
- Panels with this gene
-
- Structural eye disease
- Intellectual disability
- Anophthalmia or microphthalmia
- Monogenic short stature
- Monogenic hearing loss
- Hypogonadotropic hypogonadism (GMS)
- Osteogenesis imperfecta
- DDG2P
- Pituitary hormone deficiency
- Familial Hirschsprung Disease
- Ocular coloboma
- Fetal anomalies
- Hypogonadotropic hypogonadism
- Bilateral congenital or childhood onset cataracts
- IUGR and IGF abnormalities
- Retinal disorders
- Glaucoma (developmental)
- Clefting
History Filter Activity
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 4
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for SOX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()SOX2 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory