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Likely inborn error of metabolism - targeted testing not possible v4.36 COASY Sarah Leigh Publications for gene: COASY were set to 30089828
Likely inborn error of metabolism - targeted testing not possible v1.405 COASY Catherine Snow Classified gene: COASY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.405 COASY Catherine Snow Gene: coasy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.405 COASY Catherine Snow Classified gene: COASY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.405 COASY Catherine Snow Gene: coasy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.405 COASY Catherine Snow Classified gene: COASY as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.405 COASY Catherine Snow Gene: coasy has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.404 COASY Catherine Snow gene: COASY was added
gene: COASY was added to Inborn errors of metabolism. Sources: Expert list
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 30089828
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266
Review for gene: COASY was set to AMBER
Added comment: COASY has sufficient evidence to be made Green however as it has been purposefully not rated by experts as Green on Mitochondrial Panels COASY will be rated as Amber.
Sources: Expert list