|
Deafness, Autosomal Recessive 10
|
0.020 |
Biomarker
|
disease |
BEFREE |
Here we report the identification of a new transmembrane serine protease (TMPRSS3; also known as ECHOS1) expressed in many tissues, including fetal cochlea, which is mutated in the families used to describe both the DFNB10 and DFNB8 loci.
|
11137999 |
2001 |
|
Deafness, Autosomal Recessive 10
|
0.020 |
Biomarker
|
disease |
BEFREE |
Recently a gene which encodes a transmembrane serine protease, TMPRSS3 or ECHOS1, was found to be responsible for both the DFNB8 and DFNB10 phenotypes.
|
11907649 |
2002 |
|
Deafness, Autosomal Recessive 16
|
0.010 |
Biomarker
|
disease |
BEFREE |
Exceptions to this include DFNB2 (MYO7A), DFNB8/10 (TMPRSS3) and DFNB16 (STRC) where age of onset may sometimes be later on in childhood, DFNB4 (SLC26A4) where there may be dilated vestibular aqueducts and endolymphatic sacs, and DFNB9 (OTOF) where there may also be an associated auditory neuropathy.
|
12324385 |
2002 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
0.010 |
Biomarker
|
disease |
BEFREE |
Exceptions to this include DFNB2 (MYO7A), DFNB8/10 (TMPRSS3) and DFNB16 (STRC) where age of onset may sometimes be later on in childhood, DFNB4 (SLC26A4) where there may be dilated vestibular aqueducts and endolymphatic sacs, and DFNB9 (OTOF) where there may also be an associated auditory neuropathy.
|
12324385 |
2002 |
|
Deafness, Autosomal Recessive 9
|
0.010 |
Biomarker
|
disease |
BEFREE |
Exceptions to this include DFNB2 (MYO7A), DFNB8/10 (TMPRSS3) and DFNB16 (STRC) where age of onset may sometimes be later on in childhood, DFNB4 (SLC26A4) where there may be dilated vestibular aqueducts and endolymphatic sacs, and DFNB9 (OTOF) where there may also be an associated auditory neuropathy.
|
12324385 |
2002 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
|
21786053 |
2011 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
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 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 |
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 |
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 |
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 |
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 |
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 |