Early onset dystonia
Gene: PNKDComment 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.
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for PNKD were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Mode of inheritance for PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene PNKD was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PNKD was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
PNKD was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
PNKD was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services