Description
This panel is used for clinical indication test type 'R42.1 Leber hereditary optic neuropathy' in the NHS Genomic Medicine Service. This panel should be used first to test for Leber hereditary optic neuropathy. If no causative variants are found then consider requesting the ‘R41 Optic neuropathy’ panel (https://panelapp.genomicsengland.co.uk/panels/186/). 

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 'R42.1 Leber hereditary optic neuropathy'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. 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. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome 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.

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Neringa Jurkute (MD)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Eleanor Williams (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

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

5 Entities

5 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Green Green List (high evidence)
MT-ND1
2 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Leber's hereditary optic neuropathy
  • External ophthalmoplegia
  • Optic neuropathy and nystagmus
Tags
  • gene-checked
Green Green List (high evidence)
MT-ND4
3 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • Leber's hereditary optic neuropathy
Tags
  • gene-checked
Green Green List (high evidence)
MT-ND6
3 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert List
  • Expert Review Green
Phenotypes
  • severe infantile-onset complex I deficiency
  • Nystagmus
  • Leber hereditary optic neuropathy
Tags
  • gene-checked
Red Red List (low evidence)
PRICKLE3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Leber’s hereditary optic neuropathy
Tags
No list No list
DNAJC30
6 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • Leber hereditary optic neuropathy, MONDO:0010788
  • LHON-like
Tags

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