PanelApp
  1. Genes and Genomic Entities
  2. MYL1

MYL1

myosin light chain 1
OMIM: 160780, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red MYL1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.417

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Myopathy, congenital, with fast-twitch (type II) fiber atrophy, MIM# 618414

    Amber MYL1 in Mendeliome


    Version 1.2374

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Myopathy, congenital, with fast-twitch (type II) fiber atrophy MIM#618414

    Amber MYL1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.85

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    • NHS GMS
    Phenotypes
    • Congenital Myopathy 14 (MIM#618414)

    Red MYL1 in Fetal anomalies


    Version 1.314

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
    • Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109