Genomics England
GMS Panels
Panels
Genes and Entities

MLIP

muscular LMNA interacting protein
OMIM: 614106
PanelMode of inheritanceDetails
2 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, OMIM:620138
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 5.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138