×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
Biomarker
GENOMICS_ENGLAND
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
31160754
2019
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
Biomarker
GENOMICS_ENGLAND
Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report.
24346921
2014
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GeneticVariation
BEFREE
Mutations in glycine 59 of Cx26 are associated with PPK-deafness syndrome , and the similar phenotype here supports the observed heteromeric channel formation; the dominant nature of the mutation suggests an effect on gap junctions similar to that of the comparable mutation in Cx26.
19416251
2009
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GeneticVariation
UNIPROT
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness .
17993581
2008
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GermlineCausalMutation
ORPHANET
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness .
17993581
2008
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GeneticVariation
BEFREE
A novel missense mutation in the second extracellular domain of GJB2 , p.Ser183Phe , causes a syndrome of focal palmoplantar keratoderma with deafness .
18787097
2008
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GeneticVariation
BEFREE
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness .
17993581
2008
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
CausalMutation
CLINVAR
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
17666888
2007
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
CausalMutation
CLINVAR
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
18294064
2007
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GeneticVariation
UNIPROT
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
15996214
2005
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
Biomarker
GENOMICS_ENGLAND
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
15482471
2004
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GeneticVariation
UNIPROT
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
12668604
2003
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GeneticVariation
UNIPROT
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.
12372058
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
CausalMutation
CLINVAR
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
12172392
2002
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
CausalMutation
CLINVAR
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
10713883
2000
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GeneticVariation
UNIPROT
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).
10633135
2000
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GeneticVariation
UNIPROT
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
10757647
2000
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GermlineCausalMutation
ORPHANET
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).
10633135
2000
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
CausalMutation
CLINVAR
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
10376574
1999
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GeneticVariation
UNIPROT
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
9856479
1998
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
CausalMutation
CLINVAR
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
9336442
1997
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
CausalMutation
CLINVAR
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
9285800
1997
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
CausalMutation
CLINVAR
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
9328482
1997
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
Palmoplantar Keratoderma with Deafness
0.730
GeneticVariation
CLINVAR