1. Genes and Genomic Entities
  2. MYLPF

MYLPF

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

3 panels

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


Level 2: Neurology
Version 9.32
Latest signed off version: v9.0 (30 Apr 2025)

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
  • new-gene-name
Green MYLPF in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.184
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis, distal, type 1C, OMIM:617378
Tags
  • new-gene-name
Green MYLPF in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

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