Mitochondrial disease
Gene: COASY
Green for both NBIA and PCH
only 2 variants reported for PCH - a fs (c.1549_1550delAG) and c.1486-3C>G (Recurrent)Created: 3 May 2022, 11:03 p.m. | Last Modified: 3 May 2022, 11:04 p.m.
Panel Version: 0.13642
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#v618266
Publications
Variants in this GENE are reported as part of current diagnostic practice
A bi-functional mitochondrial enzyme, which catalyzes the final steps of CoA biosynthesis, a relevant mitochondrial cofactor. >3 cases reported.
Sources: NHS GMS, LiteratureCreated: 21 Mar 2020, 8:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#618266
Publications
Gene: coasy has been classified as Green List (High Evidence).
Gene: coasy has been classified as Green List (High Evidence).
gene: COASY was added gene: COASY was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COASY were set to 25778941; 24360804; 30089828; 28489334 Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#618266 Review for gene: COASY was set to GREEN