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Inborn errors of metabolism

Gene: COX6A1

Green List (high evidence)

COX6A1 (cytochrome c oxidase subunit 6A1)
EnsemblGeneIds (GRCh38): ENSG00000111775
EnsemblGeneIds (GRCh37): ENSG00000111775
OMIM: 602072, Gene2Phenotype
COX6A1 is in 8 panels

2 reviews

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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

Details

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 for gene: COX6A1

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: COX6A1 was added gene: COX6A1 was added to Inborn errors of metabolism. Sources: Expert Review Green 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