1. Genes and Genomic Entities
  2. MYL1

MYL1

myosin light chain 1
OMIM: 160780, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red MYL1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37 (1 May 2024)

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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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
    Green MYL1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • 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