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  3. COX6A2
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Congenital myopathy

Gene: COX6A2

Green List (high evidence)
COX6A2 (cytochrome c oxidase subunit 6A2)
EnsemblGeneIds (GRCh38): ENSG00000156885
EnsemblGeneIds (GRCh37): ENSG00000156885
OMIM: 602009, Gene2Phenotype
COX6A2 is in 5 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 5:10 p.m. | Last Modified: 1 Feb 2023, 5:10 p.m.
Panel Version: 3.14
Created: 1 Feb 2023, 5:10 p.m.
Last Modified: 1 Feb 2023, 5:10 p.m.
Panel version: 3.14

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least two unrelated cases harbouring different biallelic variants in this gene (PMID: 31155743) and presenting with a consistent phenotype of congenital myopathy. Functional studies and two mouse models are supportive of pathogenicity (PMID: 23460811; 31155743; 32744742)
Created: 25 Aug 2022, 10:14 a.m. | Last Modified: 25 Aug 2022, 10:14 a.m.
Panel Version: 2.122
Created: 25 Aug 2022, 10:14 a.m.
Last Modified: 25 Aug 2022, 10:14 a.m.
Copied from panel: Mitochondrial disorders v2.122

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two unrelated families and two mouse models.
Created: 19 Mar 2020, 9:16 a.m. | Last Modified: 19 Mar 2020, 9:16 a.m.
Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, MIM# 220110

Publications

Created: 19 Mar 2020, 9:16 a.m.
Last Modified: 19 Mar 2020, 9:16 a.m.
Copied from panel: Mitochondrial disorders v2.122

Sarah Leigh (Genomics England Curator)

I don't know

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.
Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Created: 23 Jul 2019, 10:13 a.m.
Last Modified: 23 Jul 2019, 10:13 a.m.
Copied from panel: Mitochondrial disorders v2.122

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
OMIM
602009
Clinvar variants
Variants in COX6A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_22_rating was removed from gene: COX6A2.

1 Feb 2023, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to COX6A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 Aug 2022, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: COX6A2 was added gene: COX6A2 was added to Congenital myopathy. Sources: Expert Review Amber,NHS GMS Q3_22_rating tags were added to gene: COX6A2. Mode of inheritance for gene: COX6A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX6A2 were set to 23460811; 31155743; 32744742 Phenotypes for gene: COX6A2 were set to Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062