Early onset dystonia
Gene: DCAF17Comment on list classification: Discussed internally and should be on the dystonia panel.Created: 2 Sep 2016, 11:38 a.m.
Comment on list classification: It is a possible DD gene for Woodhouse-Sakati syndrome (which includes dystonia as a clinical feature). Multiple cases from different ethnicities reported in OMIM, with different variants.Created: 23 Aug 2016, 1:45 p.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, 9:23 a.m.
Comment on list classification: This gene is not mentioned in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 8:15 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).
Mode of inheritance for DCAF17 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for DCAF17 were set to Dystonia; Woodhouse-Sakati syndrome
This gene has been classified as Green List (High Evidence).
DCAF17 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory