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Skeletal dysplasia

Gene: MYO18B

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MYO18B (myosin XVIIIB)
EnsemblGeneIds (GRCh38): ENSG00000133454
EnsemblGeneIds (GRCh37): ENSG00000133454
OMIM: 607295, Gene2Phenotype
MYO18B is in 5 panels

1 review

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

I don't know

Truncating mutations of MYO18B have been found to cause nemaline myopathy with cardiomyopathy or Klippel-Feil syndrome (KFS). Other KFS genes such as GDF3, GDF6, MEOX1, and RIPPLY2 are include in Skeletal dysplasia panel. KFS patients may have symptoms like spinal instability, disc degeneration, scoliosis, short neck, cleft palate, facial dysmorphism, and limb and hand abnormalities which may also be present in Skeletal dysplasia.
Sources: Literature
Created: 15 Jun 2021, 7:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
OMIM
607295
Clinvar variants
Variants in MYO18B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Jun 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

gene: MYO18B was added gene: MYO18B was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO18B were set to PMID: 32637634 Phenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism Penetrance for gene: MYO18B were set to Complete Review for gene: MYO18B was set to AMBER