Genomics England
GMS Panels
Panels
Genes and Entities

MYLPF

myosin light chain, phosphorylatable, fast skeletal muscle
OMIM: 617378
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MYLPF arthrogryposis (monoallelic), MYLPF arthrogryposis (biallelic)
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 1C, OMIM:617378