Mitochondrial disorder with complex IV deficiency

Gene: COX7C

Amber List (moderate evidence)

COX7C (cytochrome c oxidase subunit 7C)
EnsemblGeneIds (GRCh38): ENSG00000127184
EnsemblGeneIds (GRCh37): ENSG00000127184
OMIM: 603774, Gene2Phenotype
COX7C is in 4 panels

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex IV subunit
Created: 10 May 2019, 11:13 a.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 12:04 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 11:42 a.m.

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: COX7C; Suggested intial gene rating: Green.
Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature; good candidate gene for complex IV deficiency (encodes a subunit of the enzyme)
Created: 4 Feb 2016, 2:12 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
OMIM
603774
Clinvar variants
Variants in COX7C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cox7c has been classified as Amber List (Moderate Evidence).

10 May 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: COX7C were set to

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cox7c has been classified as Amber List (Moderate Evidence).

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: COX7C was added gene: COX7C was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX7C was set to Unknown Phenotypes for gene: COX7C were set to No OMIM phenotype