×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Resistance to hypertension and high Cl- excretion in humans with SLC26A4 mutations.
27090054
2017
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
A frequent oligogenic involvement in congenital hypothyroidism.
28444304
2017
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
27771369
2017
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
29196752
2017
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.
28786104
2017
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Genetic causes of moderate to severe hearing loss point to modifiers.
27573290
2017
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
[Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome].
28604962
2017
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.
26752218
2016
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome.
27240500
2016
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
26969326
2016
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns.
27541434
2016
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
27247933
2016
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.
26485571
2016
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.
27792752
2016
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
26969326
2016
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
27344577
2016
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.
25991456
2015
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct.
26100058
2015
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
26397989
2015
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
25394566
2015
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
25788563
2015
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
25394566
2015
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
CausalMutation
CLINVAR
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
26445815
2015
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
Pendred's syndrome
1.000
GeneticVariation
CLINVAR
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
25491636
2015