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

This panel is used for clinical indication 'R357 Mitochondrial disorder with complex V 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 'R357 Mitochondrial disorder with complex V 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/538/?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.

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    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

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

19 Entities

19 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
19 Entitiess
Green Green List (high evidence)
ATP5D
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, 618120
Tags
  • new-gene-name
Green Green List (high evidence)
ATPAF2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Tags
Green Green List (high evidence)
TMEM70
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Tags
Amber Amber List (moderate evidence)
ATP5A1
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 22, 616045
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5B
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5C1
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5E
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5F1
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5G1
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5G2
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5G3
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5H
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5I
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5J
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5J2
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5L
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5L2
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5O
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATPAF1
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags

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