PanelApp
  1. Genes and Genomic Entities
  2. MYO18B

MYO18B

myosin XVIIIB
OMIM: 607295, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MYO18B in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.14

Component of the following Super Panels:

  • Neuromuscular Superpanel

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

    Green MYO18B in Mendeliome


    Version 1.4232

    		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 1.120

    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 Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.402

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

    Green MYO18B in Fetal anomalies


    Version 1.525

    		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