This Panel is marked as Internal
Dystonia - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- pantothenate kinase-associated neurodegeneration
- Dystonia
- OMIM
- 606157
- Clinvar variants
- Variants in PANK2
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorders
- Structural basal ganglia disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Adult onset neurodegenerative disorder
- Retinal disorders
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PANK2 was added gene: PANK2 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration; Dystonia