Description
This panel is used for clinical indication 'R355 Mitochondrial disorder with complex III 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 'R355 Mitochondrial disorder with complex III deficiency'.

The content of this panel (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/536/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (17/02/2020).

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 version number. 

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.

5 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

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

15 Entities

15 reviewed, 6 green

List Entity Reviews Mode of inheritance Details
15 Entitiess
Green Green List (high evidence)
BCS1L
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
  • Leigh syndrome, 256000
Tags
Green Green List (high evidence)
CYC1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 6, 615453
Tags
Green Green List (high evidence)
LYRM7
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 8, 615838
Tags
Green Green List (high evidence)
TTC19
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
Tags
Green Green List (high evidence)
UQCC2
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 7, 615824
Tags
Green Green List (high evidence)
UQCRB
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 3, 615158
Tags
Amber Amber List (moderate evidence)
UQCC1
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCC3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex III deficiency, nuclear type 9, 616111
Tags
Amber Amber List (moderate evidence)
UQCR10
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCR11
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCRC1
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCRC2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 5, 615160
Tags
Amber Amber List (moderate evidence)
UQCRFS1
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCRH
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCRQ
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 4, 615159
Tags

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