MYLPF

myosin light chain, phosphorylatable, fast skeletal muscle
OMIM: 617378, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber MYLPF in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • 2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Distal arthrogryposis type 1C (DA1C), MIM#619110

    Amber MYLPF in Mendeliome


    Version 1.3795

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Distal arthrogryposis type 1C (DA1C), MIM#619110

    Amber MYLPF in Fetal anomalies


    Version 1.482

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert list
    Phenotypes
    • Distal arthrogryposis type 1C (DA1C), MIM#619110