Dystonia, chorea or related movement disorder, childhood onset
Gene: COASY

COASY (Coenzyme A synthase)
EnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 17 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

Neurodegeneration with brain iron accumulation 6 615643
COASY protein-associated neurodegeneration

OMIM

609855

Clinvar variants

Variants in COASY

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 May 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COASY were set to 27021474; 24360804

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to COASY. Mode of inheritance for gene COASY was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neurodegeneration with brain iron accumulation 6 615643; COASY protein-associated neurodegeneration for gene: COASY Publications for gene COASY were changed from to 27021474; 24360804