Pituitary hormone deficiency
Gene: SOX2
SOX2 (SRY-box 2)
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Microphthalmia, syndromic 3 (206900)
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Holoprosencephaly and septo-optic dysplasia
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Clefting disorders
- Mendeliome
- Eye Anterior Segment Abnormalities
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Callosome
- Differences of Sex Development
- Growth failure
- Cerebral Palsy
History Filter Activity
13 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: SOX2 was added gene: SOX2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOX2 were set to 29371155; 16932809; 30450772 Phenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 (206900)