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Inborn errors of metabolism

Gene: COASY

Amber List (moderate evidence)

COASY (Coenzyme A synthase)
EnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 16 panels

1 review

Catherine Snow (Genomics England)

I don't know

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
Created: 18 Nov 2019, 11:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266

Publications

History Filter Activity

18 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: coasy has been classified as Amber List (Moderate Evidence).

18 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: coasy has been classified as Amber List (Moderate Evidence).

18 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: coasy has been classified as Amber List (Moderate Evidence).

18 Nov 2019, Gel status: 1

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

Catherine Snow (Genomics England)

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