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 and neurodevelopmental disorders
Version 0.416

review 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 1.2302

review 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 1.313

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