Likely inborn error of metabolism - targeted testing not possible
Gene: LAMP2
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Rhabdomyolysis and metabolic muscle disorders
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 12 variants reported.Created: 17 Jan 2017, 3:59 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 1:58 p.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)
Phenotypes
Rhabdomyolysis and metabolic muscle disorders
Source NHS GMS was added to LAMP2. Source London North GLH was added to LAMP2.
Ellen McDonagh: Comment on mode of pathogenici
gene: LAMP2 was added gene: LAMP2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAMP2 were set to 27604308 Phenotypes for gene: LAMP2 were set to Danon disease