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TTN and congenital myopathy are reported together in 3 articles.
Gene
TTN
- HGNC
- HGNC:12403
11articles
11mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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
3 records shown · first 60Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.
PMID 34918981 | DOI 10.1089/gtmb.2021.0085 · Genetic testing and molecular biomarkers · 2021 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TTN | “Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “Aim: Our goal was to determine the genetic basis of early-onset myopathy in patients from two unrelated families.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.” | 0.95 | saudi_context_rules_v1 |
A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.
PMID 31218166 | PMCID PMC6557229 | DOI 10.5582/irdr.2019.01052 · Intractable & rare diseases research · 2019 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TTN | “A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “Mutation in extreme C terminus of TTN, situated at the end of M-band of the TTN in chromosome 2q31, results in tibial muscular dystrophy (TMD), also called Udd Distal Myopathy, which is an autosomal dominant distal myopathy.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging. In this article, we report a novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.” | 0.95 | saudi_context_rules_v1 |
| variant | c.85652C>G | “This report adds to the literature a heterozygous missense variant c.85652C>G, p.(Pro28551Arg) in TTN gene, which may be related to genes that cause the disease, but more case validation is needed.” | 0.95 | hgvs_regex_v1 |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
PMID 23975875 | PMCID PMC3795603 | DOI 10.1212/WNL.0b013e3182a6ca62 · Neurology · 2013 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TTN | “Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | MTM1 | “METHODS: Whole-exome or -genome sequencing was performed in a cohort of 29 unrelated patients with clinicopathologic diagnoses of CNM or related myopathy depleted for cases with mutations of MTM1, DNM2, and BIN1.” | 0.98 | hgnc_dict_v1 |
| gene | DNM2 | “METHODS: Whole-exome or -genome sequencing was performed in a cohort of 29 unrelated patients with clinicopathologic diagnoses of CNM or related myopathy depleted for cases with mutations of MTM1, DNM2, and BIN1.” | 0.98 | hgnc_dict_v1 |