Early onset dystonia
Gene: COASYEnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 17 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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 6, OMIM:615643
- neurodegeneration with brain iron accumulation 6, MONDO:0014290
- OMIM
- 609855
- Clinvar variants
- Variants in COASY
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Mitochondrial disorders
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Arthrogryposis
- Adult onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: COASY were set to 27021474
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for COASY were set to 27021474
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COASY was added to Early onset dystoniapanel. Sources: Expert Review
Created
Ellen McDonagh (Genomics England Curator)COASY was created by ellenmcdonagh