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Severe microcephaly v4.14 COASY Sarah Leigh Publications for gene: COASY were set to 30089828; 24360804; 27892483
Severe microcephaly v4.10 COASY Sarah Leigh Phenotypes for gene: COASY were changed from Pontocerebellar hypoplasia, type 12 OMIM:618266 to Pontocerebellar hypoplasia, type 12, OMIM:618266; pontocerebellar hypoplasia, type 12, MONDO:0032643
Severe microcephaly v2.282 COASY Eleanor Williams Tag watchlist was removed from gene: COASY.
Tag for-review was removed from gene: COASY.
Severe microcephaly v2.282 COASY Sarah Leigh commented on gene: COASY: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Severe microcephaly v2.281 COASY Eleanor Williams Source Expert Review Green was added to COASY.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v2.98 COASY Sarah Leigh edited their review of gene: COASY: Changed rating: GREEN
Severe microcephaly v2.98 COASY Sarah Leigh Classified gene: COASY as Amber List (moderate evidence)
Severe microcephaly v2.98 COASY Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Severe microcephaly v2.98 COASY Sarah Leigh Gene: coasy has been classified as Amber List (Moderate Evidence).
Severe microcephaly v2.97 COASY Sarah Leigh Publications for gene: COASY were set to 30089828; 24360804
Severe microcephaly v2.96 COASY Sarah Leigh Tag for-review tag was added to gene: COASY.
Severe microcephaly v2.96 COASY Sarah Leigh commented on gene: COASY: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen (although it has a confirmed associated with Neurodegeneration with brain iron accumulation 6 OMIM:615643, PMID 24360804). At least two terminating variants have been reported in four cases of Pontocerebellar hypoplasia, type 12 OMIM:618266 in two unrelated families (PMID 30089828). Segregation and supportive functional studies were reported, together with a zebrafish morpholino knockdown, where the lack of COASY expression was rescued by addition of CoA to the water or by injection of CoA in the brain ventricle (PMID 27892483). It was proposed that the human fetuses survived gestation due to exposure to maternal CoA (PMID 30089828).
Severe microcephaly v2.96 COASY Sarah Leigh Added comment: Comment on phenotypes: Variants are also associated with Neurodegeneration with brain iron accumulation 6 OMIM:615643, but this phenotype is not relevant to the Severe microcephaly panel (PMID 24360804).
Severe microcephaly v2.96 COASY Sarah Leigh Phenotypes for gene: COASY were changed from Pontocerebellar hypoplasia, type 12 OMIM:618266 to Pontocerebellar hypoplasia, type 12 OMIM:618266
Severe microcephaly v2.95 COASY Sarah Leigh Phenotypes for gene: COASY were changed from Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis to Pontocerebellar hypoplasia, type 12 OMIM:618266
Severe microcephaly v2.20 COASY Sebastian Lunke reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089828, 28489334; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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