Clefting
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
Helen Brittain (Genomics England Curator)
Causation is clear, however clefting does not appear to be a feature. Expect the ocular phenotype to predominate.Created: 26 May 2017, 7:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- MICROPHTHALMIA, SYNDROMIC 3
- MCOPS3
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- Complete
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- DDG2P
- Monogenic hearing loss
- Familial Hirschsprung Disease
- Ocular coloboma
- Pituitary hormone deficiency
- Structural eye disease
- Retinal disorders
- Hypogonadotropic hypogonadism (GMS)
- Osteogenesis imperfecta
- Monogenic short stature
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Clefting
- Glaucoma (developmental)
- Fetal anomalies
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 1
Added New Source
Helen Brittain (Genomics England Curator)SOX2 was added to Cleftingpanel. Sources: Expert Review Red
26 May 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)SOX2 was created by helen.brittain