1. Genes and Genomic Entities
  2. MYLPF

MYLPF

myosin light chain, phosphorylatable, fast skeletal muscle
OMIM: 617378, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber MYLPF in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arthrogryposis, distal, type 1C, OMIM:619110
  • Arthrogryposis, distal, type 1C, MONDO:0030847
Tags
  • watchlist
Green MYLPF in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MYLPF arthrogryposis (monoallelic)
    • MYLPF arthrogryposis (biallelic)
    Tags
    • new-gene-name