PhenoModifier-Variant Detail

Variant "GBA2:n.35766561C>T"

Search result: 1 record

Variant information

Gene:

GBA2

Variant:

GBA2:n.35766561C>T

Genomic location:

chr9:35766561(hg19)

HGVS:

SO Term	RefSeq
	MSMP-NPR2:n.35766561C>T

dbSNP ID:

rs4878628

GWAS trait:

red blood cell distribution width

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered glucosylceramide(1)

Detail：

Target disease:

Gaucher's Disease (DOID_1926)

Effect type:

Expressivity

Modifier effect:

Altered glucosylceramide

Evidence:

Study on animal models

Effect:

GBA2 as a plausible modifier for GBA1 in patients with GD

Reference:

PMID24070122

Title:

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.

Species studied:

Human

Abstract:

Gaucher disease (GD) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). GD is clinically heterogeneous and although the type of GBA1 mutation plays a role in determining the type of GD, it does not explain the clinical variability seen among patients. Cumulative evidence from recent studies suggests that GBA2 could play a role in the pathogenesis of GD and potentially interacts with GBA1.