This Panel is marked as Internal
Complex Parkinsonism (includes pallido-pyramidal syndromes)
Gene: PANK2
PANK2 (pantothenate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 12 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Also in the GeneReviews Neurodegeneration with Brain Iron Accumulation Disorders Overview, list of the genetic basis of ten types of NBIA (http://www.ncbi.nlm.nih.gov/books/NBK121988/)Created: 10 Jun 2016, 11:14 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- Early Onset Complex Disease
- Dystonia
- pantothenate kinase-associated neurodegeneration
- OMIM
- 606157
- Clinvar variants
- Variants in PANK2
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Parkinson Disease and Complex Parkinsonism
- Mitochondrial disorders
- Adult onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Intellectual disability
- Early onset dystonia
- Retinal disorders
- Adult onset neurodegenerative disorder
History Filter Activity
10 Jun 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PANK2 were set to Early Onset Complex Disease; Dystonia; pantothenate kinase-associated neurodegeneration
10 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
24 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PANK2 was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert