|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.
|
28246597 |
2017 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
|
26036852 |
2016 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
|
24526180 |
2014 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.
|
23958653 |
2013 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression.
|
23255163 |
2013 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.
|
22975204 |
2012 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
|
21534946 |
2012 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
|
21786053 |
2011 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.
|
19170735 |
2009 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
|
17551081 |
2007 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
|
16283880 |
2005 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
|
16021470 |
2005 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
|
15447792 |
2004 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
|
15447792 |
2004 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
|
11907649 |
2002 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
|
11907649 |
2002 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
|
12393794 |
2002 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
|
11462234 |
2001 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
|
11424922 |
2001 |
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
hearing impairment
|
0.460 |
Biomarker
|
phenotype |
BEFREE |
In particular 5 novel alleles were identified in the following genes LOXHD1, TMPRSS3, TECTA and MYO15A already associated with hearing impairment.
|
24657061 |
2014 |
|
hearing impairment
|
0.460 |
GeneticVariation
|
phenotype |
BEFREE |
Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
|
24416283 |
2014 |
|
hearing impairment
|
0.460 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression.
|
23255163 |
2013 |
|
hearing impairment
|
0.460 |
GeneticVariation
|
phenotype |
BEFREE |
In order to elucidate if the TMPRSS3 gene is responsible for ARNSHI in 80 Moroccan families with non-syndromic hearing impairment, the gene was sequenced using DNA samples from these families.
|
22382023 |
2012 |