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GENATLAS PHENOTYPE

last update : 24

Symbol	PARK24
Location	1q22
Name	Parkinson disease susceptibility, GBA related
Corresponding gene	GBA
Main clinical features	heterozygous pathogenic variants in GBA confer a high risk for sporadic PD, even for familial clustering, and are associated with significantly earlier age at onset of disease higher burden of trait anxiety and depression than idiopathic Parkinson Disesase
Genetic determination
Function/system disorder	neurology
Type	susceptibility factor

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense			R120W and L444P are highly prevalent among pathogenic variants

Remark(s)

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