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Severe microcephaly v1.62 COASY Louise Daugherty commented on gene: COASY: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Severe microcephaly v1.61 COASY Louise Daugherty Source NHS GMS was added to COASY.
Severe microcephaly v1.42 COASY Louise Daugherty Publications for gene: COASY were set to 30089828
Severe microcephaly v1.41 COASY Louise Daugherty commented on gene: COASY: added watchlist tag
Severe microcephaly v1.41 COASY Louise Daugherty Tag watchlist tag was added to gene: COASY.
Severe microcephaly v1.41 COASY Louise Daugherty Classified gene: COASY as Amber List (moderate evidence)
Severe microcephaly v1.41 COASY Louise Daugherty Added comment: Comment on list classification: New gene. Rated Amber until more cases on gene and disease association are reported.
Severe microcephaly v1.41 COASY Louise Daugherty Gene: coasy has been classified as Amber List (Moderate Evidence).
Severe microcephaly v1.40 COASY Louise Daugherty gene: COASY was added
gene: COASY was added to Severe microcephaly. Sources: Literature
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 Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis
Review for gene: COASY was set to AMBER
Added comment: From Dijk et al. (2018) PMID: 30089828 variants in the gene Coenzyme A (CoA) synthase (COASY) gene, an enzyme essential in CoA synthesis. A single variant was identified in 4 individuals in 2 unrelated families with PCH, prenatal onset microcephaly, and arthrogryposis. In both families, the variant c.[1549_1550delAG]; [1486-3 C>G] segregated wth the phenotype. No CoA synthase protein was detected in patient cells by immunoblot analysis and CoA synthase activity was virtually absent. Partial CoA synthase defects were previously described by Dusi et al. (2014) PMID: 24360804 as a cause of COASY Protein-Associated Neurodegeneration (CoPAN), a type of Neurodegeneration and Brain Iron Accumulation (MIM: 615643). Dijk et al. (2018) PMID: 30089828 demonstrate that near complete loss of function variants in COASY are associated with lethal PCH and arthrogryposis.
Sources: Literature