Variant: rs775459398

present in Gene: MIR103B2;MIR103A2;PANK2 present in Chromosome: 20 Position on Chromosome: 3917016 Alleles of this Variant: T/A;C

rs775459398 in MIR103B2;MIR103A2;PANK2 gene and Hallervorden-Spatz Syndrome PMID 11479594 2001 A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

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

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

PMID 15834858 2005 Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions.

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

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

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