Description
This panel is used for clinical indication 'R352 Mitochondrial DNA maintenance disorder' 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 'R352 Mitochondrial DNA maintenance disorder'.

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 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.
Panel Activity

11 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Carl Fratter (Oxford University Hospitals NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • 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

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

28 Entities

28 reviewed, 25 green

List Entity Reviews Mode of inheritance Details
28 Entitiess
Green Green List (high evidence)
ABAT
5 reviews
3 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome
Tags
Green Green List (high evidence)
AFG3L2
4 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Optic atrophy 12, OMIM:618977
  • Spinocerebellar ataxia 28, OMIM:610246
  • Spastic ataxia 5, autosomal recessive, OMIM:614487
Tags
Green Green List (high evidence)
DGUOK
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
Tags
Green Green List (high evidence)
DNA2
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156
Tags
Green Green List (high evidence)
DNM2
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate B, 606482
  • Charcot-Marie-Tooth disease, axonal type 2M, 606482
  • Centronuclear myopathy 1, 160150
Tags
Green Green List (high evidence)
FBXL4
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
Tags
Green Green List (high evidence)
LIG3
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • gut dysmotility
  • spasticity
  • ataxia
  • repetitive behaviours
  • neurogenic bladder
  • macular degeneration
  • leukoencephalopathy
  • cerebellar atrophy
  • mitochondrial DNA depletion
Tags
Green Green List (high evidence)
MFN2
4 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260
  • Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087
  • Hereditary motor and sensory neuropathy VIA, OMIM:601152
Tags
Green Green List (high evidence)
MGME1
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 11, 615084
Tags
Green Green List (high evidence)
MPV17
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Tags
Green Green List (high evidence)
OPA1
4 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Optic atrophy 1, OMIM:165500
  • Optic atrophy plus syndrome, OMIM:125250
  • Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896
  • Behr syndrome, OMIM:210000
Tags
Green Green List (high evidence)
POLG
4 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
  • Progressive external ophthalmoplegia, autosomal dominant 1, 157640
  • Progressive external ophthalmoplegia, autosomal recessive 1, 258450
Tags
Green Green List (high evidence)
POLG2
4 reviews
4 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528
  • Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Tags
Green Green List (high evidence)
RNASEH1
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Tags
Green Green List (high evidence)
RRM2B
3 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 612075
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type)
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Tags
Green Green List (high evidence)
SLC25A4
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418
Tags
Green Green List (high evidence)
SPG7
5 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spastic paraplegia 7, autosomal recessive, OMIM:607259
  • hereditary spastic paraplegia 7, MONDO:0011803
Tags
Green Green List (high evidence)
SSBP1
5 reviews
3 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510
Tags
Green Green List (high evidence)
SUCLA2
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
Tags
Green Green List (high evidence)
SUCLG1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Tags
Green Green List (high evidence)
TFAM
4 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156
Tags
Green Green List (high evidence)
TK2
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069
Tags
Green Green List (high evidence)
TOP3A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Tags
Green Green List (high evidence)
TWNK
6 reviews
4 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286
  • Perrault syndrome 5, OMIM:616138
Tags
Green Green List (high evidence)
TYMP
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
Tags
Red Red List (low evidence)
AGK
4 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350
Tags
Red Red List (low evidence)
ISCA2
4 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 4, 616370
Tags
Red Red List (low evidence)
SAMHD1
4 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Aicardi-Goutieres syndrome 5, 612952
Tags

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