This Panel is marked as Internal
Dystonia - childhood onset
Gene: PNKD
PNKD (paroxysmal nonkinesigenic dyskinesia)
EnsemblGeneIds (GRCh38): ENSG00000127838
EnsemblGeneIds (GRCh37): ENSG00000127838
OMIM: 609023, Gene2Phenotype
PNKD is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000127838
EnsemblGeneIds (GRCh37): ENSG00000127838
OMIM: 609023, Gene2Phenotype
PNKD is in 8 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Familial Paroxysmal Nonkinesigenic Dyskinesia
- PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
- Paroxysmal nonkinesigenic dyskinesia, 118800
- OMIM
- 609023
- Clinvar variants
- Variants in PNKD
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Brain channelopathy
- Paroxysmal central nervous system 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 publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PNKD was added gene: PNKD was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PNKD were set to 20301334; 15262732; 15496428; 15824259 Phenotypes for gene: PNKD were set to Familial Paroxysmal Nonkinesigenic Dyskinesia; PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Paroxysmal nonkinesigenic dyskinesia, 118800