|| Homozygous for E326K variant of GBA gene
|| E326K variant in GBA gene
|| common in clinvar
|?|| (A;A) (A;G) (G;G) ||28|
, also known as E326K or E365K, is a variation in the GBA
gene which appears to be well tolerated; in other words, it is not associated with Gaucher disease.
However, there is some evidence suggesting it is not a neutral polymorphism; instead, it appears to be a "modifier" variant.[PMID 11903352]
A news item from 2016 links rs2230288 to increased risk for rapid eye movement sleep behavior disorder (RBD), which often precedes synucleinopathies such as Parkinson's disease. Note that this research is not published as yet.
| Disease Association
|| Defects in GBA are the cause of perinatal lethal Gaucher disease (MIM:608013). It is a distinct form of type 2 Gaucher disease, characterized by fetal onset. In most cases, nonimmune hydrops fetalis is present, it is associated with hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphism. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism in 35 to 43% of cases.