Structural basal ganglia disorders

Gene: COASY

Green List (high evidence)

COASY (Coenzyme A synthase)
EnsemblGeneIds (GRCh38): ENSG00000068120
EnsemblGeneIds (GRCh37): ENSG00000068120
OMIM: 609855, Gene2Phenotype
COASY is in 17 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 2 variants reported in three cases, together with supporting in vitro evidence.
Created: 6 Mar 2017, 1:09 p.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

6 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 0

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been removed from the panel.

6 Mar 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for COASY were set to Neurodegeneration with brain iron accumulation 6 615643

6 Mar 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for COASY were set to 27021474; 24360804

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

COASY was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

COASY was added to Structural basal ganglia disorderspanel. Sources: Literature