This Panel is marked as Retired
Growth failure in early childhood
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
-
- Intellectual disability
- Anophthalmia or microphthalmia
- Pituitary hormone deficiency
- Osteogenesis imperfecta
- Clefting
- Bilateral congenital or childhood onset cataracts
- Monogenic short stature
- Fetal anomalies
- Familial Hirschsprung Disease
- Retinal disorders
- Ocular coloboma
- Hypogonadotropic hypogonadism (GMS)
- Monogenic hearing loss
- Hypogonadotropic hypogonadism
- Structural eye disease
- IUGR and IGF abnormalities
- DDG2P
- Glaucoma (developmental)
History Filter Activity
30 May 2019, Gel status: 1
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Red was added to SOX2. Rating Changed from Green List (high evidence) to Red List (low evidence)
14 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SOX2 was added gene: SOX2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted