Early onset dystonia
Gene: COASYComment on list classification: Additional recent case published PMID:27021474, therefore should be green.Created: 2 Sep 2016, 11:34 a.m.
Comment on list classification: Two unrelated cases reported in OMIM, one homozygous for ARG499CYS (rs140709867), another compound heterozygous with ARG499CYS (rs140709867) and GLN59TER rs587777136. Both reported by the same publication - PMID: 24360804.Created: 23 Aug 2016, 1:13 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/). It is a confirmed DD gene for Neurodegeneration with brain iron accumulation.Created: 19 Aug 2016, 9:22 a.m.
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, 8:13 a.m.
Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6; COASY protein-associated neurodegeneration to Neurodegeneration with brain iron accumulation 6, OMIM:615643; neurodegeneration with brain iron accumulation 6, MONDO:0014290
Publications for gene: COASY were set to 27021474
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).
Publications for COASY were set to 27021474
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).
COASY was added to Early onset dystoniapanel. Sources: Expert Review
COASY was created by ellenmcdonagh