Variant: rs121908680 

    present in Gene: BAIAP2L2;PLA2G6
    present in Chromosome: 22
    Position on Chromosome: 38112212
    Alleles of this Variant: A/C

rs121908680 in BAIAP2L2;PLA2G6 gene and Infantile Neuroaxonal Dystrophy PMID 18799783 2008 Neurodegeneration associated with genetic defects in phospholipase A(2).

PMID 27378808 2016 Child Neurology: Two sisters with dystonia and regression: PLA2G6-associated neurodegeneration.

PMID 18359254 2008 Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

PMID 16783378 2006 PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

PMID 24745848 2014 PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.

PMID 20886109 2010 Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.

PMID 20619503 2012 Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.