1. Panels
  2. Muscular dystrophy and myopathy_Paediatric
  3. MYO18B
STRs in panel
Prev Next
Regions in panel
Prev Next

Muscular dystrophy and myopathy_Paediatric

Gene: MYO18B

Green List (high evidence)
MYO18B (myosin XVIIIB)
EnsemblGeneIds (GRCh38): ENSG00000133454
EnsemblGeneIds (GRCh37): ENSG00000133454
OMIM: 607295, Gene2Phenotype
MYO18B is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Moderate gene-disease validity classified by ClinGen Congenital Myopathy VCEP - reviewed 28/06/2021
Created: 5 Jun 2023, 4:26 a.m. | Last Modified: 5 Jun 2023, 4:26 a.m.
Panel Version: 0.192
Created: 5 Jun 2023, 4:26 a.m.
Last Modified: 5 Jun 2023, 4:26 a.m.
Panel version: 0.192

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 16 Oct 2020, 1:55 a.m.
Last Modified: 16 Oct 2020, 1:55 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 0.275

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689
OMIM
607295
Clinvar variants
Variants in MYO18B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: myo18b has been classified as Green List (High Evidence).

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: myo18b has been classified as Green List (High Evidence).

5 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

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