Clefting disorders
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 Red
- Phenotypes
-
- MICROPHTHALMIA, SYNDROMIC 3
- MCOPS3
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- None
- 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
16 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SOX2 was added gene: SOX2 was added to Clefting_GEL. Sources: Expert Review Red Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX2 were set to MICROPHTHALMIA, SYNDROMIC 3; MCOPS3