MYO18B
HGNC:18150 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
3Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in MYO18B publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| congenital myopathy | — | 2 | 2 |
| arthrogryposis | — | 1 | 1 |
Linked variants
Variants normalized to MYO18B| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.6905C>A | c.6905C>A | 1 | 1 |
| p.Ser2302* | p.Ser2302* | 1 | 1 |
| c.6660_6670del | c.6660_6670del | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | — | 1 |
| Saudi Arabia | — | 1 | 1 |
Supporting publications
2 records- 2021Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.American journal of medical genetics. Part A1 mentions
- 2015A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.Journal of medical genetics1 mentions