Structural basal ganglia disorders
Gene: COASYEnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 17 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 2 variants reported in three cases, together with supporting in vitro evidence.Created: 6 Mar 2017, 1:09 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Cerebellar hypoplasia
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Arthrogryposis
- Fetal anomalies
- Severe microcephaly
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6 615643 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; 24360804
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been removed from the panel.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for COASY were set to Neurodegeneration with brain iron accumulation 6 615643
Set publications
Sarah Leigh (Genomics England Curator)Publications for COASY were set to 27021474; 24360804
Created
Manju Kurian (UCL-Institute of Child Health)COASY was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)COASY was added to Structural basal ganglia disorderspanel. Sources: Literature