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  3. COX6A1
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Paediatric or syndromic cardiomyopathy

Gene: COX6A1

Red List (low evidence)
COX6A1 (cytochrome c oxidase subunit 6A1)
EnsemblGeneIds (GRCh38): ENSG00000111775
EnsemblGeneIds (GRCh37): ENSG00000111775
OMIM: 602072, Gene2Phenotype
COX6A1 is in 9 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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: COX6A1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, recessive intermediate D, 616039

Created: 1 Feb 2019, 4:34 p.m.

Panel version: 0.16

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Overall rated green by four reviewers.
Created: 26 Feb 2016, 5:09 p.m.
Comment on mode of inheritance: Affected patients were homozygous for a 5bp deletion reported in PMID: 25152455.
Created: 26 Feb 2016, 5:08 p.m.
Comment on list classification: Rated green on this panel, and green by 3 reviewers on the Charcot-Marie Tooth panel, therefore promoted from red to green.
Created: 26 Feb 2016, 5:02 p.m.
Created: 26 Feb 2016, 5:02 p.m.

Panel version: Imported from Mitochondrial disorder with complex IV deficiency panel version Imported from Mitochondrial disorders panel version 0.375

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

two reports in literature
Created: 4 Feb 2016, 1:22 p.m.
Created: 4 Feb 2016, 1:22 p.m.

Panel version: Imported from Mitochondrial disorder with complex IV deficiency panel version Imported from Mitochondrial disorders panel version 0.16

History Filter Activity

2 Dec 2019, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to COX6A1. Rating Changed from Green List (high evidence) to Red List (low evidence)

9 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: COX6A1 was added gene: COX6A1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6A1 were set to Charcot-Marie-Tooth disease, recessive intermediate D, 616039