Early onset dystonia
Gene: WDR45Comment when marking as ready: This is a confirmed DD gene for NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (which includes dystonia as a phenotype) and more than 3 unrelated cases reported in OMIM, different variants reported.Created: 25 Aug 2016, 11:02 a.m.
Comment on list classification: Promoted from red to green due to feedback from Huw Morris (UCL). From 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: 19 Aug 2016, 9:30 a.m.
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.Created: 10 Jun 2016, 8:49 a.m.
Comment on mode of inheritance: XLD indicated 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, 6:56 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).
Phenotypes for WDR45 were set to Dystonia; beta-propeller protein-associated neurodegeneration
Mode of inheritance for WDR45 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
This gene has been classified as Green List (High Evidence).
WDR45 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory