Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 Biomarker phenotype BEFREE This meta-analysis provides level 4 evidence that GPi-DBS for pantothenate kinase-associated neurodegeneration may improve dystonia movement scores in classic type and atypical type and disability scores in atypical type 1 year postoperatively. 30633810 2019
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 Biomarker phenotype BEFREE We summarize three children with pantothenate kinase-associated neurodegeneration and tongue protrusion dystonia. 31371123 2019
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 Biomarker phenotype BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder characterised by progressive generalised dystonia and brain iron accumulation. 31202468 2019
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 Biomarker phenotype BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) is an inborn error of CoA metabolism causing dystonia, parkinsonism, and brain iron accumulation. 31660701 2019
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 GeneticVariation phenotype BEFREE A deleterious homozygous four-nucleotide deletion causing frameshift deletion in PANK2 gene (c.1426_1429delATGA, p.M476 fs) was identified in an 8 years old girl with dystonia, bone fracture, muscle rigidity, abnormal movement, lack of coordination and chorea. 28821231 2017
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 GeneticVariation phenotype BEFREE Dystonia is common in Leigh syndrome (which may be caused by 75 different genes) and in Leber hereditary ocular neuropathy (LHON) plus disease, due to mutations in mtDNA genes that encode subunits of NADH dehydrogenase, as well as in ARCA2, pantothenate kinase-associated neurodegeneration (PKAN), mitochondrial membrane protein-associated neurodegeneration (MPAN) and POLG1 mutations. 27476418 2017
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 GeneticVariation phenotype BEFREE A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia. 27185474 2016
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 GeneticVariation phenotype BEFREE We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. 20694531 2010
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 GeneticVariation phenotype LHGDN Focal hand dystonia in a patient with PANK2 mutation. 18074375 2008
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 GeneticVariation phenotype BEFREE Mutations in the pantothenate kinase 2 gene (PANK2) are the cause of pantothenate kinase associated neurodegeneration (PKAN), an autosomal recessive (AR) disorder characterized by motor symptoms as such as dystonia or parkinsonism, mental retardation, retinitis pigmentosa and iron accumulation in the brain. 16962235 2006
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 Biomarker phenotype BEFREE We describe an atypical case of pantothenate kinase-associated neurodegeneration (PKAN) in which slowly progressive arm tremor was the predominant symptom beginning at the age of 25, with late-onset dystonia and dysarthria developing at the age of 50. 16450344 2006
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 Biomarker phenotype BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) causes a progressive generalized dystonia which remains pharmacologically intractable. 15852393 2005
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 GeneticVariation phenotype LHGDN The presence of mutation in the PANK2 gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance. 14743358 2004
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 GeneticVariation phenotype BEFREE The presence of mutation in the PANK2 gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance. 14743358 2004
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 Biomarker phenotype BEFREE Disease caused by mutations in the gene encoding pantothenate kinase 2 (PANK2) is characterized by dystonia and pigmentary retinopathy in children or speech and neuropsychiatric defects in adults, in concert with a specific pattern on MRI of the brain. 14631201 2003
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 Biomarker phenotype GENOMICS_ENGLAND A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 11479594 2001
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 CausalMutation phenotype CLINVAR
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.500 Biomarker phenotype HPO