Inherited white matter disorders

Gene: COX15

Green List (high evidence)

COX15 (COX15, cytochrome c oxidase assembly homolog)
EnsemblGeneIds (GRCh38): ENSG00000014919
EnsemblGeneIds (GRCh37): ENSG00000014919
OMIM: 603646, Gene2Phenotype
COX15 is in 16 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: More than 3 cases reported in OMIM. Phenotypic variation associated with variants in this gene has been reported.
Created: 26 Aug 2016, 9:13 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer and is a confirmed DD gene for Mitochondrial complex IV disorder. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Mitochondrial complex IV disorders. Green gene in the Mitochondrial panel version 1.7 and ID panel version 1.2.
Created: 12 Aug 2016, 2:33 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_667

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

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

26 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

26 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COX15 were set to Mitochondrial Leukoencephalopathy;Mitochondrial complex IV disorders

26 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COX15 were set to 25655951

12 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

COX15 was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

COX15 was created by [email protected]