Deafness, Autosomal Dominant 2A
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.
|
26036578 |
2015 |
Deafness, Autosomal Dominant 2A
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.
|
25116015 |
2014 |
Deafness, Autosomal Dominant 2A
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix.
|
23399560 |
2013 |
Deafness, Autosomal Dominant 2A
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.
|
23443030 |
2013 |
Deafness, Autosomal Dominant 2A
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
|
23717403 |
2013 |
Deafness, Autosomal Dominant 2A
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss.
|
22420747 |
2012 |
Deafness, Autosomal Dominant 2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
|
21242547 |
2011 |
Deafness, Autosomal Dominant 2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.
|
10925378 |
2000 |
Deafness, Autosomal Dominant 2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
|
10369879 |
1999 |
Deafness, Autosomal Dominant 2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
|
10025409 |
1999 |
Deafness, Autosomal Dominant 2A
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.
|
10571947 |
1999 |
Deafness, Autosomal Dominant 2A
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
|
10025409 |
1999 |
Deafness, Autosomal Dominant 2A
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.
|
9126484 |
1997 |
Deafness, Autosomal Dominant 2A
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Deafness, Autosomal Dominant 2A
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Nonsyndromic Deafness
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.
|
30556268 |
2019 |
Nonsyndromic Deafness
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Variants of KCNQ4 are one of the most common causes of dominantly inherited nonsyndromic hearing loss.
|
31028865 |
2019 |
Nonsyndromic Deafness
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.
|
30413759 |
2018 |
Nonsyndromic Deafness
|
0.390 |
Biomarker
|
disease |
BEFREE |
Once the <i>KCNQ4</i> pathogenic variant has been identified in a family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis for DFNA2 nonsyndromic hearing loss are possible.
|
29739174 |
2018 |
Nonsyndromic Deafness
|
0.390 |
Biomarker
|
disease |
CLINGEN |
A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.
|
28340560 |
2017 |
Nonsyndromic Deafness
|
0.390 |
Biomarker
|
disease |
CLINGEN |
A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.
|
26036578 |
2015 |
Nonsyndromic Deafness
|
0.390 |
Biomarker
|
disease |
CLINGEN |
Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.
|
25116015 |
2014 |
Nonsyndromic Deafness
|
0.390 |
Biomarker
|
disease |
CLINGEN |
A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.
|
24655070 |
2014 |
Nonsyndromic Deafness
|
0.390 |
Biomarker
|
disease |
CLINGEN |
Kcnq1-5 (Kv7.1-5) potassium channel expression in the adult zebrafish.
|
24555524 |
2014 |
Nonsyndromic Deafness
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
|
23717403 |
2013 |