Dystonia - complex
Gene: COASYEnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 13 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Dystonia is a common presenting feature in some cases of NBIA.
PMID: 24360804
Two unrelated italian individuals presenting with dystonic features along with varying degrees of developmental delay and other neurological features including NBIA.
Homozygous missense and compound heterozygous mutations were identified.
Hom - Arg499Cys - FAF 0.002%
Compound het - Arg499Cys;Gln59Ter - absent from gnomAD v4.1
PMID: 27021474
Individual born to consanguineous italian parents presenting with various neurological features including cognitive impairment and NBIA on MRI imaging. As her disease progressed, she developed some dystonic features.
Homozygous R499C was identified.Created: 6 Dec 2024, 12:52 a.m. | Last Modified: 6 Dec 2024, 12:52 a.m.
Panel Version: 0.242
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodegeneration with brain iron accumulation 6 MONDO:0014290
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- neurodegeneration with brain iron accumulation 6, MONDO:0014290
- Neurodegeneration with brain iron accumulation 6 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 Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COASY were changed from COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6 615643 to neurodegeneration with brain iron accumulation 6, MONDO:0014290; Neurodegeneration with brain iron accumulation 6 615643
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: COASY were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: COASY was added gene: COASY was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6 615643