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| Mitochondrial disorders v4.95 | COASY | Sarah Leigh Tag Q2_23_promote_green was removed from gene: COASY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.95 | COASY | Sarah Leigh edited their review of gene: COASY: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This gene is not associated with primary mitochondrial disease. Consensus opinion from the 3 specialist mitochondrial providers.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.38 | COASY | Sarah Leigh Classified gene: COASY as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.38 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.38 | COASY | Sarah Leigh Gene: coasy has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.37 | COASY | Sarah Leigh Tag Q2_23_promote_green tag was added to gene: COASY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.37 | COASY | Sarah Leigh Publications for gene: COASY were set to 11980892; 25778941; 24360804; 28489334; 30089828; 36495139 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.36 | COASY | Sarah Leigh Publications for gene: COASY were set to 25778941; 24360804; 30089828; 28489334 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.35 | COASY |
Sarah Leigh edited their review of gene: COASY: Added comment: COASY variants are associated with Neurodegeneration with brain iron accumulation 6 (OMIM: 615643) and as definitive Gen2Phen gene for neurodegeneration with brain iron accumulation and also with Pontocerebellar hypoplasia, type 12, OMIM:618266. PMID: 24360804 & 28489334 report three COASY variants in three unrelated cases of OMIM: 615643, with supportive functional studies presented (PMID: 24360804). PMID: 30089828 report two COASY variants in two unrelated cases of OMIM:618266, with in vitro functional studies revealing an absence of COASY-protein. A further homozygous COASY variant has been reported in two sibs with a novel neonatal-onset progressive neurodegenerative disorder with striking brain MRI findings (PMID: 36495139). It has been established that the COASY protein - coenzyme A synthase - is associated with the outer mitochondrial membrane (PMID: 11980892, 24360804).; Changed rating: GREEN |
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| Mitochondrial disorders v4.35 | COASY | Sarah Leigh Phenotypes for gene: COASY were changed from Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 to Neurodegeneration with brain iron accumulation 6, OMIM:615643; neurodegeneration with brain iron accumulation 6, MONDO:0014290; Pontocerebellar hypoplasia, type 12, OMIM:618266; pontocerebellar hypoplasia, type 12, MONDO:0032643 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.34 | COASY | Sarah Leigh Publications for gene: COASY were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COASY | Zornitza Stark reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 24360804, 30089828, 28489334; Phenotypes: Neurodegeneration with brain iron accumulation 6 MIM#615643, Pontocerebellar hypoplasia, type 12 MIM#618266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.412 | COASY | Sarah Leigh reviewed gene: COASY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.411 | COASY |
Sarah Leigh gene: COASY was added gene: COASY was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266 |
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