Ocular coloboma
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
1 review
Alice Gardham (Genomics England)
Most often associated with microphthalmia but known to cause coloboma in some individualsCreated: 16 Nov 2016, 12:01 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, syndromic 3 206900
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Literature
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Microphthalmia, syndromic 3 206900
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Monogenic hearing loss
- Hypogonadotropic hypogonadism (GMS)
- Clefting
- Ocular coloboma
- Structural eye disease
- Monogenic short stature
- Familial Hirschsprung Disease
- Retinal disorders
- Osteogenesis imperfecta
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Fetal anomalies
- DDG2P
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
History Filter Activity
6 Feb 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
16 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
16 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)SOX2 was created by agardham
16 Nov 2016, Gel status: 3
Added New Source
Alice Gardham (Genomics England)SOX2 was added to Ocular colobomapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Literature