This Panel is marked as Internal
Dystonia - childhood onset
Gene: COASY
COASY (Coenzyme A synthase)
EnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 17 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- COASY protein-associated neurodegeneration
- Neurodegeneration with brain iron accumulation 6 615643
- OMIM
- 609855
- Clinvar variants
- Variants in COASY
- Penetrance
- None
- 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
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Mitochondrial disorders
- Fetal anomalies
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: COASY was added gene: COASY was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to 24360804; 27021474 Phenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6 615643