Skeletal dysplasia
Gene: MYO18BThe 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
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
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: LiteratureCreated: 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
Tag Q3_21_rating was removed from gene: MYO18B.
Source Expert Review Green was added to MYO18B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: myo18b has been classified as Amber List (Moderate Evidence).
Publications for gene: MYO18B were set to PMID: 32637634
Tag Q3_21_rating tag was added to gene: MYO18B.
Phenotypes for gene: MYO18B were changed from Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549
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