Severe hypertriglyceridaemiaGene: CELSR2
17 years old male with 1000 mg/dl of triglycerides before treatment with fibrates and pancreatitis. Single heterozygous variant in LPL and another in CELSR2. No identifiable variants in APOAV, APOAIV, APOCII, APOCIII, GPD1, GPIHBP1 (personal communication from Mafalda Bourbon, Lisbon, Portugal [email protected])
Created: 5 Jun 2017, 10:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CELSR2 was added to Severe hypertriglyceridaemiapanel. Sources: Other
CELSR2 was created by sleigh