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KCNE1 and hearing loss are reported together in 2 articles.
Gene
KCNE1
- HGNC
- HGNC:6240
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Hearing loss
- HPO
- HP:0000365
663articles
663mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.
PMID 24125535 | DOI 10.1111/cge.12300 · Clinical genetics · 2014 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNE1 | “Molecular defects causal to JLNS are either homozygous or compound heterozygous mutations, predominantly in the KCNQ1 gene and occasionally in the KCNE1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disorder, clinically characterized by severe cardiac arrhythmias [due to prolonged QTc interval in electrocardiogram (ECG)] and bilateral sensory neural deafness.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | KCNQ1 | “De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | arrhythmia | “Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disorder, clinically characterized by severe cardiac arrhythmias [due to prolonged QTc interval in electrocardiogram (ECG)] and bilateral sensory neural deafness.” | 0.93 | phenotype_alias_lexicon_v2 |
An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.
PMID 19027783 | DOI 10.1016/j.pbiomolbio.2008.10.004 · Progress in biophysics and molecular biology · 2008 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNE1 | “Romano-Ward syndrome (RWs) and Jervell and Lange-Nielsen Syndrome (JLNs) are two inherited arrhythmia disorders caused by monoallelic or bi-allelic mutations, respectively, in the KCNQ1 or KCNE1 genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “Both disorders could cause Long QT syndrome either without deafness (RWs), or with deafness (JLNs).” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | KCNQ1 | “An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | arrhythmia | “Romano-Ward syndrome (RWs) and Jervell and Lange-Nielsen Syndrome (JLNs) are two inherited arrhythmia disorders caused by monoallelic or bi-allelic mutations, respectively, in the KCNQ1 or KCNE1 genes.” | 0.98 | phenotype_alias_lexicon_v2 |