Rhabdomyolysis and metabolic muscle disordersGene: LAMP2
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 12 variants reported.
Created: 5 Dec 2016, 10:55 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Danon disease 300257
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
LAMP2 was created by sleigh
LAMP2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN