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
Version 10.5
Latest signed off version: v10.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
  • Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
Green MYL1 in Congenital myopathy


Level 2: Neurology
Version 7.14
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    • Expert Review
    Phenotypes
    • Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
    Green MYL1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.10
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, congenital, with fast-twitch (type II) fiber atrophy, OMIM:618414
    • Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109
    Red MYL1 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414