|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
|
15531480 |
2004 |
|
Congenital Abnormality
|
|
0.010 |
GeneticVariation
|
BEFREE |
Two of the 15 individuals with suspected Pendred syndrome because of hypothyreoidism or cochleovestibular malformations were monoallelic for likely pathogenic mutations: a splice mutation (IVS7 + 2 T > C) and the previously described c.1246A > C (p.T416P).
|
29739340 |
2018 |
|
Goiter
|
|
0.010 |
GeneticVariation
|
BEFREE |
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
|
15531480 |
2004 |
|
Pendred's syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.
|
12354788 |
2002 |
|
Pendred's syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Heterogeneity in the processing defect of SLC26A4 mutants.
|
18310264 |
2008 |
|
Pendred's syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Molecular analysis of the PDS gene in Pendred syndrome.
|
9618167 |
1998 |
|
Pendred's syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
|
23336812 |
2013 |
|
Pendred's syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
|
24224479 |
2014 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
26969326 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
|
29739340 |
2018 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.
|
30484383 |
2019 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
|
27771369 |
2017 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
|
10861298 |
2000 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Heterogeneity in the processing defect of SLC26A4 mutants.
|
18310264 |
2008 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
|
28000701 |
2017 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.
|
12354788 |
2002 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
|
30240412 |
2018 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical and molecular analysis of three Mexican families with Pendred's syndrome.
|
11375792 |
2001 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
|
12788906 |
2003 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
|
11748854 |
2001 |
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation in the pendrin gene associated with Pendred's syndrome.
|
10718825 |
2000 |