Early onset dystonia

Gene: COASY

Green List (high evidence)

COASY (Coenzyme A synthase)
EnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 18 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment 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.

History Filter Activity

17 Oct 2016, Gel status: 4

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.

2 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Sep 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COASY were set to 27021474

2 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COASY was added to Early onset dystoniapanel. Sources: Expert Review

10 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COASY was created by ellenmcdonagh