Retinal disorders
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
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
optic nerve hypoplasia, microphthalmiaCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Eye Disorders
- Retinitis pigmentosa 33, 610359
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- Complete
- 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
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SOX2.
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SOX2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SOX2 was created by ellenmcdonagh