Skeletal dysplasia

Gene: MYO18B

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 6 Mar 2022, 6:30 p.m. | Last Modified: 6 Mar 2022, 6:30 p.m.

Panel Version: 2.184

Green List (high evidence)

Comment on list classification: There are sufficient unrelated cases presenting with a relevant phenotype associated with variants in this gene to rate as Green at the next GMS panel update.

Created: 30 Sep 2021, 11:18 a.m. | Last Modified: 30 Sep 2021, 11:18 a.m.

Panel Version: 2.134

A total of 11 individuals with biallelic variants (including 6 Arab cases with the same founder variant) in this gene have been reported. Of these, 6/10 had Klippel-Feil anomaly (plus suspected in a 7th case but not confirmed radiographically) characterised by the presence of congenital synostosis of the cervical vertebrae. Other axial skeleton abnormalities such as scoliosis also commonly reported.

Created: 30 Sep 2021, 11:16 a.m. | Last Modified: 30 Sep 2021, 11:16 a.m.

Panel Version: 2.132

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549

Publications

• 25748484
• 31195167
• 32184166
• 32637634
• 33179433

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

• PMID: 32637634