Brain Calcification
Gene: COASYEnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 13 panels
1 review
Yetong Chen (University of Melbourne)
There is limited evidence to support a causal role for the COASY gene in brain calcification.
PMID 24360804 demonstrates variants in COASY as a cause of brain iron accumulation, which includes brain calcification, by using segregation analysis. Brain calcification was found in one patient with a homozygous variant of COASY.
Sources: Expert listCreated: 28 Mar 2023, 4:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6 (COPAN); NBIA6
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 6, MIM# 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 Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6 (COPAN); NBIA6 to Neurodegeneration with brain iron accumulation 6, MIM# 615643
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: coasy has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: COASY was added gene: COASY was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to 27487380; 24360804 Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 (COPAN); NBIA6 Review for gene: COASY was set to RED