Muscular dystrophy and myopathy_Paediatric
Gene: MYO18BComment on list classification: Moderate gene-disease validity classified by ClinGen Congenital Myopathy VCEP - reviewed 28/06/2021Created: 5 Jun 2023, 4:26 a.m. | Last Modified: 5 Jun 2023, 4:26 a.m.
Panel Version: 0.192
5 unrelated families reported (two shared same haplotype, so founder variant), zebrafish model supports gene-disease association.Created: 16 Oct 2020, 1:55 a.m. | Last Modified: 16 Oct 2020, 1:55 a.m.
Panel Version: 0.275
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM# 616549
Publications
Gene: myo18b has been classified as Green List (High Evidence).
Gene: myo18b has been classified as Green List (High Evidence).
gene: MYO18B was added gene: MYO18B was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO18B were set to 25748484; 27858739; 32637634; 32184166; 27879346 Phenotypes for gene: MYO18B were set to Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689