Variant: rs137852959 

    present in Gene: MIR103B2;PANK2
    present in Chromosome: 20
    Position on Chromosome: 3918695
    Alleles of this Variant: G/A

rs137852959 in MIR103B2;PANK2 gene and Hallervorden-Spatz Syndrome PMID 15834858 2005 Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.

PMID 27185474 2016 A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.

PMID 24075960 2013 A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration.

PMID 15659606 2005 Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2.

PMID 24655737 2014 Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.

PMID 16450344 2006 Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.

PMID 11479594 2001 A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 22930366 2013 Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

PMID 16272150 2006 The PanK2(G521R), the most frequent mutation in pantothenate kinase-associated neurodegeneration, was devoid of activity and did not fold properly.

PMID 12510040 2003 Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

PMID 22221393 2012 Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.