Differences of Sex Development
Gene: SOX2EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 13 panels
1 review
Chirag Patel (Genetic Health Queensland)
SOX2 disorder includes anophthalmia and/or microphthalmia, brain malformations, developmental delay / intellectual disability, oesophageal atresia, pituitary hypoplasia, postnatal growth delay, hypotonia, seizures, and spastic or dystonic movements, and hypogonadotropic hypogonadism (manifest as cryptorchidism and micropenis in males, gonadal dysgenesis infrequently in females, and delayed puberty in both sexes). Established gene-disease association.
Sources: LiteratureCreated: 5 Dec 2024, 4:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008799; Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
Publications
- PMID: 20301477
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008799
- Microphthalmia, syndromic 3, MIM# 206900
- Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- None
- Publications
-
- PMID: 20301477
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Holoprosencephaly and septo-optic dysplasia
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Clefting disorders
- Mendeliome
- Eye Anterior Segment Abnormalities
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Callosome
- Differences of Sex Development
- Growth failure
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sox2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: sox2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: SOX2 was added gene: SOX2 was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX2 were set to PMID: 20301477 Phenotypes for gene: SOX2 were set to Anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0008799; Microphthalmia, syndromic 3, MIM# 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Review for gene: SOX2 was set to GREEN