Osteogenesis imperfecta
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
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:05 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Proportionate Short Stature/Small for Gestational Age
- Tags
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Anophthalmia or microphthalmia
- DDG2P
- Monogenic short stature
- Familial Hirschsprung Disease
- Ocular coloboma
- Fetal anomalies
- Hypogonadotropic hypogonadism (GMS)
- Retinal disorders
- Osteogenesis imperfecta
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Glaucoma (developmental)
- Structural eye disease
- Pituitary hormone deficiency
- Clefting
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: SOX2.
16 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SOX2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory