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KCNQ1 and congenital myopathy are reported together in 1 article.
Gene
KCNQ1
- HGNC
- HGNC:6294
24articles
24mentions
6variants with confirmed gene link
Most co-reported phenotypes (articles)
long QT syndrome 9arrhythmia 8diabetes mellitus 8hearing loss 4Ehlers-Danlos syndrome 1Turner syndrome 1congenital myopathy 1coronary artery disease 1
Reported variants (articles · ClinVar status)
Phenotype
Congenital myopathy
134articles
134mentions
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
1 records shown · first 60A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child.
PMID 41675948 | PMCID PMC12890232 | DOI 10.4103/sjmms.sjmms_716_25 · Saudi journal of medicine & medical sciences · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “Whole-exome sequencing (WES) revealed homozygous mutations in the PUS1 gene and heterozygous mutations in the KCNQ1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PUS1 | “Whole-exome sequencing (WES) revealed homozygous mutations in the PUS1 gene and heterozygous mutations in the KCNQ1 gene.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child. In addition, while MLASA syndrome has been reported from several countries worldwide, we present the first patient with MLASA1 syndrome from the Kingdom of Saudi Arabia in this case report.” | 0.95 | saudi_context_rules_v1 |