Eye Anterior Segment Abnormalities
Gene: SOX2EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 13 panels
1 review
Chirag Patel (Genetic Health Queensland)
Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Microarray/WES/WGS in 95 individuals with PA found 4 unrelated patients with PA (isolated or with microphthalmia) with pathogenic variants in SOX2 gene.
Sources: LiteratureCreated: 15 May 2022, 11:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Peters' anomaly, no OMIM #; Microphthalmia, syndromic 3, OMIM # 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, OMIM # 206900
Publications
- PMID: 35170016
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Peters' anomaly, no OMIM #
- Microphthalmia, syndromic 3, OMIM # 206900
- Optic nerve hypoplasia and abnormalities of the central nervous system, OMIM # 206900
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- None
- Publications
-
- PMID: 35170016
- 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
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: sox2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: SOX2 was added gene: SOX2 was added to Eye Anterior Segment Abnormalities. Sources: Literature Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX2 were set to PMID: 35170016 Phenotypes for gene: SOX2 were set to Peters' anomaly, no OMIM #; Microphthalmia, syndromic 3, OMIM # 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, OMIM # 206900 Review for gene: SOX2 was set to GREEN