Parkinson Disease and Complex Parkinsonism
Gene: COASY
Associated with Neurodegeneration with brain iron accumulation 6 (OMIM: 615643) and as definitive Gen2Phen gene for neurodegeneration with brain iron accumulation.
PMID: 24360804 & 28489334 report three COASY variants in three unrelated cases of OMIM: 615643. Supportive functional studies were also presented (PMID: 24360804). The neurological features of case II-2 of family 2, included Parkinsonian features (rigidity and abnormal postural reflexes). (PMID: 24360804).Created: 11 May 2023, 4:14 p.m. | Last Modified: 11 May 2023, 4:14 p.m.
Panel Version: 1.113
Extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism are prominent due to iron accumulation in the basal ganglia. 2 families reported.
Sources: Expert listCreated: 25 Aug 2020, 10:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6, MIM# 615643
Publications
Publications for gene: COASY were set to 28489334; 24360804
Gene: coasy has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6, MIM# 615643 to Neurodegeneration with brain iron accumulation 6, OMIM:615643; neurodegeneration with brain iron accumulation 6, MONDO:0014290
gene: COASY was added gene: COASY was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to 28489334; 24360804 Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6, MIM# 615643 Review for gene: COASY was set to AMBER