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SLC26A4

solute carrier family 26 member 4

HCNC Approved Symbol
SLC26A4 (HGNC:8818)
Genomic Coordinates
7:107,660,828 - 107,717,809 (7q22.3)
Synonyms
PDS, DFNB4
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
600791AR
Pendred syndrome
274600AR

Diagnosed Cases

81Patients

In total, 81 patients were diagnosed with a variant in the SLC26A4 gene.

Frequently observed phenotypes

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

Hearing loss
 64 (79.0%)
Hearing impairment
 
6 (7.4%)
Enlarged vestibular aqueduct
 
5 (6.2%)
Sensorineural hearing impairment
 
4 (4.9%)
Profound deafness
 
2 (2.5%)