Hereditary ataxia with onset in adulthood
Gene: COASYEnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Enough evidence for both phenotypes (both associated with either ataxic gait and/or cerebellar abnormalities). For PCH12 have two families but functional evidence in form of undetectable COASY protein and enzyme activityCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6, 615643, Pontocerebellar hypoplasia type 12, 618266
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Pontocerebellar hypoplasia type 12, 618266
- Neurodegeneration with brain iron accumulation 6, 615643
- OMIM
- 609855
- Clinvar variants
- Variants in COASY
- Penetrance
- None
- Publications
- Panels with this gene
-
- 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
- Intellectual disability
- 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 publications
Sarah Leigh (Genomics England Curator)Publications for gene: COASY were set to
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: COASY was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: coasy has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Pontocerebellar hypoplasia type 12, 618266; Neurodegeneration with brain iron accumulation 6, 615643 for gene: COASY
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to COASY.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: COASY was added gene: COASY was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: COASY was set to