| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.38 | COASY | Zornitza Stark Marked gene: COASY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.38 | COASY | Zornitza Stark Gene: coasy has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.38 | COASY | Zornitza Stark Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6 (COPAN); NBIA6 to Neurodegeneration with brain iron accumulation 6, MIM# 615643 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.37 | COASY | Zornitza Stark Classified gene: COASY as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.37 | COASY | Zornitza Stark Gene: coasy has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.22 | COASY |
Yetong Chen 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 Added comment: 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 list |
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