Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R356 Mitochondrial disorder with complex IV deficiency' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R356 Mitochondrial disorder with complex IV deficiency'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs and STRs may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.


The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/537/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (31/07/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

8 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Katherine Smith (Genomics England)

    Group: Other
    Workplace: Other

  • Carl Fratter (Oxford University Hospitals NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Shamima Rahman (UCL Institute of Child Health)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

40 Entities

40 reviewed, 18 green

List Entity Reviews Mode of inheritance Details
40 Entitiess
Green Green List (high evidence)
APOPT1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
  • new-gene-name
Green Green List (high evidence)
COA6
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Tags
Green Green List (high evidence)
COA7
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Tags
Green Green List (high evidence)
COX10
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX14
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX15
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leigh syndrome due to cytochrome c oxidase deficiency, 256000
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Tags
Green Green List (high evidence)
COX20
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX6A1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Tags
Green Green List (high evidence)
COX6B1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX7B
3 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Linear skin defects with multiple congenital anomalies 2, 300887
Tags
Green Green List (high evidence)
FASTKD2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
LRPPRC
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leigh syndrome, French-Canadian type, 220111
Tags
Green Green List (high evidence)
NDUFA4
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Green Green List (high evidence)
PET100
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
SCO1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
SCO2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Tags
Green Green List (high evidence)
SURF1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, type 4K, 616684
  • Leigh syndrome, due to COX IV deficiency, 256000
Tags
Green Green List (high evidence)
TACO1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Amber Amber List (moderate evidence)
CEP89
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COA1
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COA3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COA4
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COA5
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Tags
Amber Amber List (moderate evidence)
COX11
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX16
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX17
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX18
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX19
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX4I1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX4I2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
Tags
Amber Amber List (moderate evidence)
COX5A
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pulmonary arterial hypertension, lactic acidemia, and failure to thrive
Tags
Amber Amber List (moderate evidence)
COX5B
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX6A2
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX6B2
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX6C
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX7A1
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX7C
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX8A
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex IV deficiency, 220110
Tags
Amber Amber List (moderate evidence)
OXA1L
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
PET117
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags

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