MYL1

myosin light chain 1
OMIM: 160780, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber MYL1 in Neuromuscular disorders


Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • congenital myopathy

Red MYL1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2 (13 Feb 2020)

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 2.89
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • 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
    • Congenital myopathy with reduced type 2 muscle fibers, MONDO:0034109

    Green MYL1 in Fetal anomalies


    Version 1.905
    Latest signed off version: v1.92 (21 Aug 2020)

    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

    Green MYL1 in Severe Paediatric Disorders


    Version 1.127

    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