SOX10 - Gene browser

SOX10

SRY-box transcription factor 10

HCNC Approved Symbol: SOX10 (HGNC:11190)
Genomic Coordinates: 22:37,972,312 - 37,984,555 (22q13.1)
Synonyms: DOM, WS4, WS2E, SOX-10
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

17Patients

In total, 17 patients were diagnosed with a variant in the SOX10 gene.

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

017
Patient count

Hearing loss: 5 (29.4%)
Patient Count: 5 (29.4%)
% of total patients presenting each phenotype is shown in parentheses.
5 (29.4%)
Iris hypopigmentation: 4 (23.5%)
Patient Count: 4 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (23.5%)
Heterochromia iridis: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)
Global developmental delay: 3 (17.6%)
Patient Count: 3 (17.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (17.6%)
Intellectual disability: 2 (11.8%)
Patient Count: 2 (11.8%)
% of total patients presenting each phenotype is shown in parentheses.
2 (11.8%)