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MYO18B and congenital myopathy are reported together in 2 articles.
Gene
MYO18B
- HGNC
- HGNC:18150
2articles
2mentions
1variants with confirmed gene link
Most co-reported phenotypes (articles)
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
2 records shown · first 60Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.
PMID 33179433 | DOI 10.1002/ajmg.a.61957 · American journal of medical genetics. Part A · 2021 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MYO18B | “Klippel-Feil syndrome 4 (KFS4; MIM# 616549) is an autosomal recessive disorder caused by biallelic pathogenic variants in MYO18B and comprises, in addition to Klippel-Feil anomaly (KFA), nemaline myopathy, facial dysmorphism, and short stature.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | arthrogryposis | “All patients had myopathy of varying severity that followed a slowly progressive or non-progressive course, affecting primarily the proximal musculature of the lower limb although hand involvement with distal arthrogryposis and abnormal interphalangeal creases was also observed.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We comprehensively analyzed the medical records of 6 Saudi and 1 American patients (including 5 previously unpublished cases) with a molecularly confirmed diagnosis of KFS4. The causal MYO18B variants were a founder NM_032608.5:c.6905C>A; p.(Ser2302*) variant in the Saudi patients (P1-P6) and a novel MYO18B homozygous variant (c.6660_6670del;p.[Arg2220Serfs*74]) in the American Caucasian patient (P7).” | 0.95 | saudi_context_rules_v1 |
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
PMID 25748484 | DOI 10.1136/jmedgenet-2014-102964 · Journal of medical genetics · 2015 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MYO18B | “A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Population | “METHODS: Clinical phenotyping of two consanguineous families followed by combined autozygome/exome analysis.” | 0.80 | saudi_context_rules_v1 |