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COL6A1 and Duchenne muscular dystrophy are reported together in 2 articles.
Gene
COL6A1
- HGNC
- HGNC:2211
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Duchenne muscular dystrophy
40articles
40mentions
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 60Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy.
PMID 41439068 | PMCID PMC12721479 | DOI 10.7759/cureus.97510 · Cureus · 2025 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL6A1 | “Whole exome sequencing (WES) subsequently identified a heterozygous pathogenic splice-site variant (c.1056+1G>A) in the COL6A1 gene, confirming a diagnosis of Bethlem myopathy type 1, an autosomal dominant collagen VI-related disorder.” | 0.98 | hgnc_dict_v1 |
| phenotype | Duchenne muscular dystrophy | “Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | congenital myopathy | “Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | c.1056+1G>A | “Whole exome sequencing (WES) subsequently identified a heterozygous pathogenic splice-site variant (c.1056+1G>A) in the COL6A1 gene, confirming a diagnosis of Bethlem myopathy type 1, an autosomal dominant collagen VI-related disorder.” | 0.95 | hgvs_regex_v1 |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
PMID 27708273 | PMCID PMC5266644 | DOI 10.1038/jhg.2016.116 · Journal of human genetics · 2017 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL6A1 | “Dominant mutations were identified in COL6A1, COL6A3, FLNC, LMNA, RYR1, SMCHD1 and VCP, recessive mutations in ANO5, CAPN3, GAA, LAMA2, SGCA and SGCG, and X-linked mutations in DMD.” | 0.98 | hgnc_dict_v1 |
| phenotype | Duchenne muscular dystrophy | “Twenty-two families (40%) had novel and previously reported pathogenic mutations, primarily in LGMD genes, and also in genes for Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, congenital myopathy, myofibrillar myopathy, inclusion body myopathy and Pompe disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | COL6A3 | “Dominant mutations were identified in COL6A1, COL6A3, FLNC, LMNA, RYR1, SMCHD1 and VCP, recessive mutations in ANO5, CAPN3, GAA, LAMA2, SGCA and SGCG, and X-linked mutations in DMD.” | 0.98 | hgnc_dict_v1 |
| gene | FLNC | “Dominant mutations were identified in COL6A1, COL6A3, FLNC, LMNA, RYR1, SMCHD1 and VCP, recessive mutations in ANO5, CAPN3, GAA, LAMA2, SGCA and SGCG, and X-linked mutations in DMD.” | 0.98 | hgnc_dict_v1 |