Mitochondrial disorders
Gene: COASY
A bi-functional mitochondrial enzyme, which catalyzes the final steps of CoA biosynthesis, a relevant mitochondrial cofactor. >3 cases reported.Created: 23 Mar 2020, 4:06 a.m. | Last Modified: 23 Mar 2020, 4:06 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#618266
Publications
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.Created: 11 Oct 2023, 9:52 a.m. | Last Modified: 11 Oct 2023, 9:52 a.m.
Panel Version: 4.95
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 16 May 2023, 10:39 a.m. | Last Modified: 16 May 2023, 10:39 a.m.
Panel Version: 4.38
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).Created: 16 May 2023, 10:28 a.m. | Last Modified: 16 May 2023, 10:28 a.m.
Panel Version: 4.35
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q2_23_promote_green was removed from gene: COASY.
Gene: coasy has been classified as Amber List (Moderate Evidence).
Tag Q2_23_promote_green tag was added to gene: COASY.
Publications for gene: COASY were set to 11980892; 25778941; 24360804; 28489334; 30089828; 36495139
Publications for gene: COASY were set to 25778941; 24360804; 30089828; 28489334
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
Publications for gene: COASY were set to
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