Early-onset Parkinson disease
Gene: COASYEnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism are prominent due to iron accumulation in the basal ganglia. Only 2 families reported.Created: 25 Aug 2020, 10:20 a.m. | Last Modified: 25 Aug 2020, 10:20 a.m.
Panel Version: 0.50
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6, MIM# 615643
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 6, MIM# 615643
- OMIM
- 609855
- Clinvar variants
- Variants in COASY
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Neurodegeneration with brain iron accumulation
- Fetal anomalies
- Microcephaly
- Dystonia - complex
- Arthrogryposis
- Mendeliome
- Brain Calcification
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Vitamin metabolism disorders
- Early-onset Parkinson disease
- Cerebellar and Pontocerebellar Hypoplasia
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: coasy has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COASY were changed from to Neurodegeneration with brain iron accumulation 6, MIM# 615643
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: COASY were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: COASY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: coasy has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COASY was added gene: COASY was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: COASY was set to Unknown