Bilateral congenital or childhood onset cataracts
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
Sarah Waller (Manchester Centre for Genomic Medicine)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Added to the red list due to expert review.Created: 31 May 2016, 11:24 a.m.
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for AEG syndrome and Microphthalmia syndromic Type 3. Associated with Microphthalmia, syndromic 3 and Optic nerve hypoplasia and abnormalities of the central nervous system in OMIM. It is unclear whether cataracts is a feature of these diseases.Created: 29 Apr 2016, 2:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- UKGTN
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Hypogonadotropic hypogonadism (GMS)
- Ocular coloboma
- Intellectual disability
- Monogenic short stature
- Familial Hirschsprung Disease
- Osteogenesis imperfecta
- Clefting
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Structural eye disease
- Monogenic hearing loss
- Fetal anomalies
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Anophthalmia or microphthalmia
History Filter Activity
2 Jun 2016, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SOX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
31 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
31 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 May 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()SOX2 was added to Cataractspanel. Sources: UKGTN