Monogenic short stature
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
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- None
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Pituitary hormone deficiency
- Osteogenesis imperfecta
- Monogenic short stature
- Clefting
- Familial Hirschsprung Disease
- Fetal anomalies
- Ocular coloboma
- Hypogonadotropic hypogonadism (GMS)
- Intellectual disability
- Monogenic hearing loss
- Hypogonadotropic hypogonadism
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- IUGR and IGF abnormalities
- Glaucoma (developmental)
- DDG2P
- Retinal disorders
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)gene: SOX2 was added gene: SOX2 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted