PanelApp
  1. Genes and Genomic Entities
  2. MYO18B

MYO18B

myosin XVIIIB
OMIM: 607295, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MYO18B in Mendeliome


Version 1.3519

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM# 616549

Green MYO18B in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    Phenotypes
    • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689

    Green MYO18B in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, MONDO:0014689
    • Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, OMIM:616549