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| Eye Anterior Segment Abnormalities v1.2 | SOX2 | Chirag Patel Classified gene: SOX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v1.2 | SOX2 | Chirag Patel Gene: sox2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Eye Anterior Segment Abnormalities v1.1 | SOX2 |
Chirag Patel 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 Added comment: 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: Literature |
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