SOX2 - Gene browser

SOX2

SRY-box transcription factor 2

HCNC Approved Symbol: SOX2 (HGNC:11195)
Genomic Coordinates: 3:181,711,925 - 181,714,436 (3q26.33)
Synonyms
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the SOX2 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

08
Patient count

Anophthalmia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Septo-optic dysplasia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Panhypopituitarism: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Choanal atresia: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)
Corpus callosum abnormalities: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)