Early onset dystonia
Gene: PNKDEnsemblGeneIds (GRCh38): ENSG00000127838
EnsemblGeneIds (GRCh37): ENSG00000127838
OMIM: 609023, Gene2Phenotype
PNKD is in 8 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Discussed internally, and fine to include genes with incomplete penetrance for dystonia.Created: 2 Sep 2016, noon
Comment on list classification: More than 3 families/cases reported in OMIM for Paroxysmal nonkinesigenic dyskinesia, different variants reported. Two reports that rs121434511 ALA9VAL was found in some inaffected family members and therefore may have incomplete penetrance.Created: 23 Aug 2016, 2:45 p.m.
Comment on list classification: Is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 8:21 a.m.
This is also known as MR-1.Created: 9 Jun 2016, 10:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Familial Paroxysmal Nonkinesigenic Dyskinesia
- Paroxysmal nonkinesigenic dyskinesia, 118800
- OMIM
- 609023
- Clinvar variants
- Variants in PNKD
- Penetrance
- Incomplete
- Publications
-
- http://www.ncbi.nlm.nih.gov/books/NBK1155/
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Brain channelopathy
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for PNKD were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
GEL ()PNKD was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()PNKD was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()PNKD was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services