Structural basal ganglia disorders

Gene: COX10

Green List (high evidence)

COX10 (COX10, heme A:farnesyltransferase cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000006695
EnsemblGeneIds (GRCh37): ENSG00000006695
OMIM: 602125, Gene2Phenotype
COX10 is in 20 panels

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed G2P also for both. At least variants reported. Three variants reported in two cases of Leigh syndrome MIM 256000. Three variants reported in two cases of Mitochondrial complex IV deficiency MIM 220110, omim clinical synopsis states "Symmetric lesions in the basal ganglia consistent with Leigh syndrome"
Created: 2 Mar 2017, 12:57 p.m.

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

2 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).

2 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).

2 Mar 2017, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for COX10 were set to 10767350

2 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

COX10 was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

COX10 was added to Structural basal ganglia disorderspanel. Sources: Literature