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  3. COASY
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Mitochondrial disease

Gene: COASY

Green List (high evidence)
COASY (Coenzyme A synthase)
EnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 13 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 3 May 2022, 11:03 p.m.
Last Modified: 3 May 2022, 11:04 p.m.
Panel version: Imported from Mendeliome panel version 0.13642

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

A bi-functional mitochondrial enzyme, which catalyzes the final steps of CoA biosynthesis, a relevant mitochondrial cofactor. >3 cases reported.
Sources: NHS GMS, Literature
Created: 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

Created: 21 Mar 2020, 8:39 a.m.

Panel version: 0.281

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodegeneration with brain iron accumulation 6 MIM#615643
  • Pontocerebellar hypoplasia, type 12 MIM#618266
OMIM
609855
Clinvar variants
Variants in COASY
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: coasy has been classified as Green List (High Evidence).

21 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: coasy has been classified as Green List (High Evidence).

21 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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