Neurodegeneration with brain iron accumulation
Gene: COASY

COASY (Coenzyme A synthase)
EnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 13 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Established gene-disease association. Affected individuals present with progressive motor and cognitive dysfunction in childhood or young adulthood and can exhibit extrapyramidal motor signs.
At least three unrelated families reported with variants in COASY and clinical imaging (MRI) showed evidence of brain iron accumulation (i.e. eye of the tiger sign).
Created: 3 Dec 2024, 5:28 a.m. | Last Modified: 3 Dec 2024, 5:28 a.m.

Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodegeneration with brain iron accumulation 6 MONDO:0014290

Publications

Created: 3 Dec 2024, 5:28 a.m.
Last Modified: 3 Dec 2024, 5:28 a.m.
Panel version: 0.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

GeneReviews
Expert Review Green

Phenotypes

OMIM 618266)
COASY protein-associated neurodegeneration (CoPAN

OMIM

609855

Clinvar variants

Variants in COASY

Penetrance

None

Panels with this gene

History Filter Activity

10 Nov 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: COASY was added gene: COASY was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COASY were set to OMIM 618266); COASY protein-associated neurodegeneration (CoPAN

Neurodegeneration with brain iron accumulation Gene: COASY