Description
This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

The content of this panel is overseen by NHS Genomic Medicine Service governance.

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

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel is also a constituent panel of super panel 'White matter disorders - childhood onset'. Changes made to this panel will automatically be updated in the relevant super panel(s).

This is a combined panel for Mitochondrial disorders and includes the disorders:
- Mitochondrial disorders
- Lactic Acidosis

The green genes on this panel (version 2.0) are consistent with the GMS Mitochondrial specialist test group sign-off assement of the GMS mitochondrial panels (16/09/2019).
The content of this panel (version 2.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/112/?version=2.0) was signed off under NHS Genomic Medicine Service governance on (16/09/2019).

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.

15 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

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ellen Thomas (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

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rachel Jones (GSTT)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • 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

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

470 Entities

467 reviewed, 251 green

List Entity Reviews Mode of inheritance Details
470 Entitiess
Green Green List (high evidence)
AARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 8, 614096
  • infantile mitochondrial cardiomyopathy
Tags
Green Green List (high evidence)
ABAT
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • mtDNA depletion syndrome
  • 613163
Tags
Green Green List (high evidence)
ABCB7
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of iron homeostasis
  • Anemia, sideroblastic, with ataxia
  • congenital cerebellar hypoplasia/atrophy (PMID: 26242992).
Tags
Green Green List (high evidence)
ACAD9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • ACAD9 deficiency, 611126
  • Mitochondrial complex I deficiency due to ACAD9 deficiency
Tags
Green Green List (high evidence)
ACO2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559
Tags
Green Green List (high evidence)
AFG3L2
3 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Spinocerebellar ataxia 28, 610246
  • Ataxia, spastic, 5, autosomal recessive, 614487
Tags
Green Green List (high evidence)
AGK
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Sengers syndrome, 212350
  • Mitochondrial DNA depletion syndrome 10
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Disorders of mitochondrial lipid metabolism
  • Cataract 38, autosomal recessive, 614691
Tags
Green Green List (high evidence)
AIFM1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial apoptosis
  • Combined oxidative phosphorylation deficiency 6, 300816
  • Cowchock syndrome, 310490
Tags
Green Green List (high evidence)
ANO10
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, 613728
Tags
Green Green List (high evidence)
APOPT1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
Tags
  • new-gene-name
Green Green List (high evidence)
APTX
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
  • Ataxia with oculomotor apraxia 1
Tags
Green Green List (high evidence)
ATAD3A
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Harel-Yoon syndrome 617183
Tags
Green Green List (high evidence)
ATP5D
1 review
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex V deficiency
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
  • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
  • Mitochondrial Diseases
Tags
  • watchlist
Green Green List (high evidence)
BCS1L
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
  • Leigh syndrome, 256000
  • Bjornstad syndrome, 262000
  • GRACILE syndrome, 603358
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex III Deficiency
Tags
Green Green List (high evidence)
BOLA3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of iron homeostasis
  • Multiple mitochondrial dysfunctions syndrome 2, 614299
  • Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)
  • Multiple Mitochondrial Dysfunctions Syndrome
Tags
Green Green List (high evidence)
BTD
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Biotinidase deficiency
Tags
Green Green List (high evidence)
C12orf65
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 7, 613559
  • Spastic paraplegia 55, autosomal recessive, 615035
Tags
Green Green List (high evidence)
C19orf70
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 37, 618329
Tags
  • new-gene-name
Green Green List (high evidence)
C1QBP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 33, MIM#617713
Tags
Green Green List (high evidence)
CA5A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
Tags
Green Green List (high evidence)
CARS2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 27 616672
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • No OMIM phenotype
Tags
Green Green List (high evidence)
CHCHD10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • Spinal muscular atrophy, Jokela type
Tags
Green Green List (high evidence)
CLPB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis
  • progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
  • cataract, neutropenia, epilepsy
  • congenital microcephaly and severe encephalopathy
Tags
Green Green List (high evidence)
CLPP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Perrault syndrome 3, 614129
Tags
Green Green List (high evidence)
COA6
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Tags
  • treatable
Green Green List (high evidence)
COA7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
COQ2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 1, 607426
  • Coenzyme Q10 deficiency
  • {Multiple system atrophy, susceptibility to}, 146500
Tags
Green Green List (high evidence)
COQ4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7
  • Disorders of ubiquinone metabolism and biosynthesis
Tags
Green Green List (high evidence)
COQ6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Steroid-resistant nephrotic syndrome
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 6, 614650
Tags
Green Green List (high evidence)
COQ7
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 8 616733
  • complex multisystem presentation
Tags
Green Green List (high evidence)
COQ8A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 4, 612016
  • Coenzyme Q10 deficiency
Tags
Green Green List (high evidence)
COQ8B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrotic syndrome, type 9
Tags
Green Green List (high evidence)
COQ9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 5, 614654
  • Coenzyme Q10 deficiency
Tags
  • watchlist
Green Green List (high evidence)
COX10
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Tags
Green Green List (high evidence)
COX14
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX15
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Leigh syndrome due to cytochrome c oxidase deficiency, 256000
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Tags
Green Green List (high evidence)
COX20
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX6A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Tags
Green Green List (high evidence)
COX6B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Cytochrome c oxidase deficiency, 220110
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Tags
Green Green List (high evidence)
COX7B
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887
  • MICROPHTHALMIA WITH LINEAR SKIN LESIONS
  • Linear skin defects with multiple congenital anomalies
Tags
Green Green List (high evidence)
CYC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 6, 615453
Tags
Green Green List (high evidence)
DARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
Green Green List (high evidence)
DGUOK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Mitochondrial DNA Depletion Syndrome
Tags
Green Green List (high evidence)
DLAT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Pyruvate dehydrogenase E2 deficiency, 245348
Tags
Green Green List (high evidence)
DLD
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Dihydrolipoamide dehydrogenase deficiency, 246900
  • Leigh syndrome
Tags
Green Green List (high evidence)
DMPK_CTG
STR
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • STR
Green Green List (high evidence)
DNA2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
  • 615156
Tags
Green Green List (high evidence)
DNAJC19
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of the mitochondrial import system
  • 3-methylglutaconic aciduria, type V, 610198
Tags
Green Green List (high evidence)
DNM1L
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
Tags
Green Green List (high evidence)
DNM2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Centronuclear myopathy 1, 160150
  • Charcot-Marie-Tooth disease, axonal type 2M, 606482
  • Charcot-Marie-Tooth disease, dominant intermediate B, 606482
Tags
Green Green List (high evidence)
EARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 12, 614924
Tags
Green Green List (high evidence)
ECHS1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Tags
Green Green List (high evidence)
ELAC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 17, 615440
  • infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency
Tags
Green Green List (high evidence)
ETFDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • GLUTARIC ACIDURIA TYPE 2C
  • Glutaric acidemia IIC
Tags
Green Green List (high evidence)
ETHE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Ethylmalonic encephalopathy, 602473
  • Ethylmalonic encephalopathy
Tags
Green Green List (high evidence)
FARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 14, 614946
Tags
Green Green List (high evidence)
FASTKD2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Tags
Green Green List (high evidence)
FBXL4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471
  • fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.
Tags
Green Green List (high evidence)
FDX2
6 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900
Tags
  • watchlist
Green Green List (high evidence)
FDXR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Auditory neuropathy and optic atrophy 617717
Tags
Green Green List (high evidence)
FH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Fumarase deficiency, 606812
Tags
Green Green List (high evidence)
FLAD1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
Tags
Green Green List (high evidence)
FOXRED1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
GARS
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Charcot-Marie-Tooth disease, type 2D
  • Neuropathy, distal hereditary motor, type VA
Tags
  • treatable
Green Green List (high evidence)
GDAP1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Charcot Marie Tooth disease (CMT4A)
  • Charcot-Marie-Tooth disease, axonal, type 2K
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
  • Charcot-Marie-Tooth disease, recessive intermediate, A
  • Charcot-Marie-Tooth disease, type 4A
Tags
Green Green List (high evidence)
GFER
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Disorders of the mitochondrial import system
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Tags
Green Green List (high evidence)
GFM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 1, 609060
Tags
Green Green List (high evidence)
GFM2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Early-onset neurological presentations of mitochondrial disease
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Green Green List (high evidence)
GLRX5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of iron homeostasis
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Tags
Green Green List (high evidence)
GTPBP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy
  • Combined oxidative phosphorylation deficiency 23
Tags
Green Green List (high evidence)
HARS2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Perrault syndrome 2, 614926
Tags
Green Green List (high evidence)
HCCS
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, syndromic 7, 309801
  • Linear skin defects with multiple congenital anomalies 1
Tags
Green Green List (high evidence)
HIBCH
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620
  • HIBCH deficiency
Tags
Green Green List (high evidence)
HLCS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holocarboxylase synthetase deficiency, 253270
Tags
Green Green List (high evidence)
HSD17B10
2 reviews
1 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
  • Victorian Clinical Genetics Services
Phenotypes
  • HSD10 mitochondrial disease 300438
Tags
Green Green List (high evidence)
HSPD1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 13, autosomal dominant, 605280
  • Leukodystrophy, hypomyelinating, 4, 612233
Tags
Green Green List (high evidence)
HTRA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria, type VIII 617248
Tags
Green Green List (high evidence)
IARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 616007
Tags
Green Green List (high evidence)
IBA57
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Multiple mitochondrial dysfunctions syndrome 3, 615330
  • ?Spastic paraplegia 74, autosomal recessive
Tags
Green Green List (high evidence)
2p21 region (includes PREPL and SLC3A1) Loss
ISCA-37440-Loss
Region
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • mild/moderate mental retardation
  • facial dysmorphism
  • Hypotonia-cystinuria syndrome (HCS)
  • 2p21 deletion syndrome
  • rapid weight gain in late childhood
  • failure to thrive
  • growth hormone deficiency
  • 606407
  • lactic acidemia
  • respiratory chain complex IV deficiency
  • hyperphagia
  • minor facial dysmorphism
  • severe somatic and developmental delay
  • nephrolithiasis
  • cystinuria
  • neonatal seizures
  • hypotonia
Tags
Green Green List (high evidence)
ISCA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Tags
Green Green List (high evidence)
ISCA2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • infantile neurodegenerative mitochondrial disorder
Tags
  • founder-effect
Green Green List (high evidence)
ISCU
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of iron homeostasis
  • Myopathy with lactic acidosis, hereditary, 255125
Tags
  • founder-effect
  • non-coding-known-pathogenic
Green Green List (high evidence)
KARS
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
  • Deafness, autosomal recessive 89, 613916
Tags
  • new-gene-name
Green Green List (high evidence)
LARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Perrault syndrome 4, 615300
  • Perrault syndrome
Tags
Green Green List (high evidence)
LIAS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462
Tags
Green Green List (high evidence)
LIPT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipoyltransferase 1 deficiency
Tags
Green Green List (high evidence)
LIPT2
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668
Tags
Green Green List (high evidence)
LONP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
Tags
Green Green List (high evidence)
LRPPRC
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Leigh syndrome, French-Canadian type, 220111
  • Mitochondrial Diseases
Tags
Green Green List (high evidence)
LYRM7
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 8
  • 615838
  • leukoencephalopathy and complex III deficiency
  • severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle
Tags
  • watchlist
Green Green List (high evidence)
MARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Spastic Ataxia 13, autosomal recessive, 611390
  • ?Combined oxidative phosphorylation deficiency 25
Tags
  • missense
Green Green List (high evidence)
MDH2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 51 617339
Tags
Green Green List (high evidence)
MECR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Tags
Green Green List (high evidence)
MFF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Tags
Green Green List (high evidence)
MFN2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Charcot-Marie-Tooth disease, type 2A2, 609260
  • Hereditary motor and sensory neuropathy VI, 601152
Tags
Green Green List (high evidence)
MGME1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 11, 615084
Tags
Green Green List (high evidence)
MICU1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy with extrapyramidal signs 615673
Tags
  • founder-effect
Green Green List (high evidence)
MIPEP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 31, 617228
Tags
Green Green List (high evidence)
MPC1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial pyruvate carrier deficiency, 614741
Tags
Green Green List (high evidence)
MPV17
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3
  • Mitochondrial DNA Depletion Syndrome
Tags
Green Green List (high evidence)
MRPL3
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 9, 614582
Tags
Green Green List (high evidence)
MRPL44
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Combined oxidative phosphorylation deficiency 16, 615395
Tags
Green Green List (high evidence)
MRPS2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Combined oxidative phosphorylation deficiency 36 617950
Tags
Green Green List (high evidence)
MRPS22
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 5, 611719
Tags
Green Green List (high evidence)
MRPS34
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 32 617664
Tags
Green Green List (high evidence)
MSTO1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopathy, mitochondrial, and ataxia, 617675
Tags
Green Green List (high evidence)
MT-ATP6
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-ATP8
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
  • CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
  • BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO
Tags
Green Green List (high evidence)
MT-CO1
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • LEBER OPTIC ATROPHY
  • SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
  • CYTOCHROME c OXIDASE DEFICIENCY
  • MYOGLOBINURIA, RECURRENT
  • CYTOCHROME c OXIDASE I DEFICIENCY
Tags
Green Green List (high evidence)
MT-CO2
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • CYTOCHROME c OXIDASE DEFICIENCY
Tags
Green Green List (high evidence)
MT-CO3
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-CYB
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • LEBER OPTIC ATROPHY
  • ENCEPHALOMYOPATHY, MITOCHONDRIAL
  • MULTISYSTEM DISORDER
  • EXERCISE INTOLERANCE
  • CARDIOMYOPATHY, INFANTILE HISTIOCYTOID
  • EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA
  • PARKINSONISM/MELAS OVERLAP SYNDROME
Tags
Green Green List (high evidence)
MT-ND1
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • LEBER OPTIC ATROPHY
  • SUDDEN INFANT DEATH SYNDROME
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • DYSTONIA, ADULT-ONSET
  • MELAS SYNDROME
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Tags
Green Green List (high evidence)
MT-ND2
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • LEBER OPTIC ATROPHY
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
Green Green List (high evidence)
MT-ND3
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
Green Green List (high evidence)
MT-ND4
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • LEBER OPTIC ATROPHY
  • MELAS SYNDROME
  • LEBER OPTIC ATROPHY AND DYSTONIA
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
Tags
  • gene-therapy-trial
Green Green List (high evidence)
MT-ND4L
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • LEBER OPTIC ATROPHY
Tags
Green Green List (high evidence)
MT-ND5
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • LEBER OPTIC ATROPHY
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
  • MELAS SYNDROME
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
  • MERRF SYNDROME
Tags
Green Green List (high evidence)
MT-ND6
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • LEBER OPTIC ATROPHY
  • LEBER OPTIC ATROPHY AND DYSTONIA
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
  • MELAS SYNDROME
  • STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
Tags
Green Green List (high evidence)
MT-RNR1
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • DEAFNESS, AMINOGLYCOSIDE-INDUCED
  • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
  • CARDIOMYOPATHY, RESTRICTIVE
  • AUDITORY NEUROPATHY
Tags
  • locus-type-rna-ribosomal
Green Green List (high evidence)
MT-TA
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • MYOTONIC DYSTROPHY-LIKE MYOPATHY
  • MITOCHONDRIAL MYOPATHY
Tags
  • locus-type-rna-transfer
Green Green List (high evidence)
MT-TC
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • MELAS SYNDROME
  • DYSTONIA, MITOCHONDRIAL
Tags
Green Green List (high evidence)
MT-TD
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • MITOCHONDRIAL MYOPATHY, ISOLATED
Tags
Green Green List (high evidence)
MT-TE
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
  • DIABETES AND DEAFNESS, MATERNALLY INHERITED
  • MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
Tags
Green Green List (high evidence)
MT-TF
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TG
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TH
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TI
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TK
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TL1
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TL2
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TM
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TN
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TP
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TQ
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TR
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TS1
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TS2
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TV
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TW
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MT-TY
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
MTFMT
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 15, 614947
  • Mitochondrial complex I deficiency, nuclear type 27 618248
Tags
  • watchlist
Green Green List (high evidence)
MTO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 10, 614702
  • infantile hypertrophic cardiomyopathy and lactic acidosis.
Tags
Green Green List (high evidence)
MTPAP
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Spastic ataxia 4, autosomal recessive 613672
Tags
Green Green List (high evidence)
NADK2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • ?2,4-dienoyl-CoA reductase deficiency 616034
Tags
  • treatable
Green Green List (high evidence)
NARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 24
Tags
Green Green List (high evidence)
NAXE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186
Tags
Green Green List (high evidence)
NDUFA1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
Tags
Green Green List (high evidence)
NDUFA10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome, 256000
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFA11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFA4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • No OMIM phenotype
Tags
Green Green List (high evidence)
NDUFA6
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 33, 618253
Tags
Green Green List (high evidence)
NDUFA9
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 26, 618247
Tags
Green Green List (high evidence)
NDUFAF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFAF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Leigh syndrome, 256000
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFAF3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFAF4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFAF5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex 1 deficiency, 252010
  • Mitochondrial Diseases
Tags
Green Green List (high evidence)
NDUFAF6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
Tags
Green Green List (high evidence)
NDUFAF8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Green Green List (high evidence)
NDUFB11
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Linear skin defects with multiple congenital anomalies 3
  • histiocytoid cardiomyopathy
  • microphthalmia with linear skin defects syndrome
Tags
Green Green List (high evidence)
NDUFB3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
Tags
Green Green List (high evidence)
NDUFB8
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 32, 618252
Tags
Green Green List (high evidence)
NDUFS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFS3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFS4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome, 256000
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFS6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Complex I, mitochondrial respiratory chain, deficiency of, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFS7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome, 256000
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFS8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFV1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NDUFV2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
NFU1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1
Tags
Green Green List (high evidence)
NUBPL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Tags
Green Green List (high evidence)
OPA1
3 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Optic atrophy 1, 165500
  • {Glaucoma, normal tension, susceptibility to}, 606657
  • Optic atrophy plus syndrome, 125250
  • Mitochondrial DNA Depletion Syndrome
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
  • Optic atrophy 1, 165500
Tags
Green Green List (high evidence)
OPA3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
Tags
Green Green List (high evidence)
PARS2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Alpers syndrome
  • Epileptic encephalopathy, early infantile, 75, 618437
Tags
Green Green List (high evidence)
PC
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Pyruvate carboxylase deficiency
Tags
Green Green List (high evidence)
PDHA1
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
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency, 312170
  • Leigh syndrome, X-linked, 308930
Tags
Green Green List (high evidence)
PDHB
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Pyruvate dehydrogenase E1-beta deficiency, 614111
Tags
Green Green List (high evidence)
PDHX
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Lacticacidemia due to PDX1 deficiency
Tags
Green Green List (high evidence)
PDP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency, 608782
Tags
Green Green List (high evidence)
PDSS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 2, 614651
Tags
Green Green List (high evidence)
PDSS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 3, 614652
Tags
Green Green List (high evidence)
PET100
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
  • Leigh syndrome
Tags
Green Green List (high evidence)
PMPCA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • non-progressive cerebellar ataxia
  • slowly progressive cerebellar ataxia
Tags
Green Green List (high evidence)
PMPCB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 6, 617954
Tags
Green Green List (high evidence)
PNPLA8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Mitochondrial myopathy with lactic acidosis, 251950
Tags
Green Green List (high evidence)
PNPT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 13, 614932
  • Deafness, autosomal recessive 70, 614934
  • respiratory chain disorder
  • hearing loss
Tags
Green Green List (high evidence)
POLG
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement exclusion criteria
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external ophthalmoplegia, autosomal recessive, 258450
  • Progressive external ophthalmoplegia, autosomal dominant, 157640
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
  • Mitochondrial DNA Depletion Syndrome
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
Tags
Green Green List (high evidence)
POLG2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
Tags
Green Green List (high evidence)
PPA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PUS1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Mitochondrial myopathy and sideroblastic anemia 1, 600462
Tags
Green Green List (high evidence)
QRSL1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Green Green List (high evidence)
RARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Pontocerebellar hypoplasia, type 6, 611523
Tags
Green Green List (high evidence)
RMND1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 11, 614922
  • Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect
Tags
Green Green List (high evidence)
RNASEH1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Tags
Green Green List (high evidence)
RRM2B
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075
  • Mitochondrial DNA Depletion Syndrome (recessive)
Tags
Green Green List (high evidence)
RTN4IP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
Tags
Green Green List (high evidence)
SACS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
  • Spastic ataxia, Charlevoix-Saguenay type
Tags
Green Green List (high evidence)
SARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Tags
Green Green List (high evidence)
SCO1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Hepatic failure, early onset, and neurologic disorder
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Tags
Green Green List (high evidence)
SCO2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
  • Myopia 6, 608908
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Tags
Green Green List (high evidence)
SDHA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex II deficiency
  • Leigh syndrome, 256000
  • Mitochondrial respiratory chain complex II deficiency, 252011
  • Cardiomyopathy, dilated, 1GG, 613642
  • Paragangliomas 5, 614165
  • Mitochondrial Respiratory Chain Complex II Deficiency
Tags
Green Green List (high evidence)
SDHAF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex II deficiency, 252011
Tags
Green Green List (high evidence)
SDHD
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial respiratory chain complex II deficiency 252011
Tags
Green Green List (high evidence)
SERAC1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Tags
Green Green List (high evidence)
SFXN4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 18, 615578
Tags
Green Green List (high evidence)
SLC19A2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Thiamine-responsive megaloblastic anemia syndrome, 249270
Tags
Green Green List (high evidence)
SLC19A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483
Tags
Green Green List (high evidence)
SLC25A1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial protein transport
  • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
Tags
Green Green List (high evidence)
SLC25A12
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 39 612949
Tags
Green Green List (high evidence)
SLC25A19
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, Amish type, 607196
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
Tags
Green Green List (high evidence)
SLC25A26
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness
  • Combined oxidative phosphorylation deficiency 28
  • intra-mitochondrial methylation deficiency.
Tags
Green Green List (high evidence)
SLC25A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial phosphate carrier deficiency, 610773
Tags
Green Green List (high evidence)
SLC25A32
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Exercise intolerance, riboflavin-responsive 616839
Tags
  • treatable
Green Green List (high evidence)
SLC25A38
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • nonsyndromic autosomal recessive congenital sideroblastic anemia
  • congenital sideroblastic anemias
  • severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
Tags
Green Green List (high evidence)
SLC25A4
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) 617184
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) 615418
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Tags
Green Green List (high evidence)
SLC25A42
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • mitochondrial myopathy
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416
Tags
  • founder-effect
Green Green List (high evidence)
SLC25A46
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • optic atrophy spectrum disorder
Tags
Green Green List (high evidence)
SPG7
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Spastic paraplegia 7, autosomal recessive, 607259
Tags
Green Green List (high evidence)
SUCLA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073
  • Mitochondrial DNA Depletion Syndrome
Tags
Green Green List (high evidence)
SUCLG1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400
  • Mitochondrial DNA Depletion Syndrome
Tags
Green Green List (high evidence)
SURF1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Leigh syndrome, due to COX deficiency, 256000
  • Mitochondrial Diseases
  • Leigh Syndrome
  • Complex IV deficiency
Tags
Green Green List (high evidence)
TACO1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Mitochondrial complex IV deficiency, 220110
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Tags
Green Green List (high evidence)
TAZ
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial lipid metabolism
  • Barth syndrome, 302060
Tags
Green Green List (high evidence)
TIMM50
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type IX 617698
Tags
  • watchlist
Green Green List (high evidence)
TIMM8A
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of the mitochondrial import system
  • Deafness, X-linked 1, progressive
  • Mohr-Tranebjaerg syndrome, 304700
  • Jensen syndrome, 311150
Tags
Green Green List (high evidence)
TK2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
  • Mitochondrial DNA Depletion Syndrome
Tags
Green Green List (high evidence)
TMEM126B
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
Tags
Green Green List (high evidence)
TMEM70
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex V deficiency
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
  • Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
  • Mitochondrial Diseases
Tags
Green Green List (high evidence)
TOP3A
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Tags
Green Green List (high evidence)
TPK1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
Tags
Green Green List (high evidence)
TRIT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 35 617873
Tags
Green Green List (high evidence)
TRMT10C
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 30, 616974
Tags
Green Green List (high evidence)
TRMT5
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 26 616539
Tags
Green Green List (high evidence)
TRMU
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • {Deafness, mitochondrial, modifier of}, 580000
  • Liver failure, transient infantile, 613070
Tags
Green Green List (high evidence)
TRNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD)
  • retinitis pigmentosa with erythrocytic microcytosis
Tags
Green Green List (high evidence)
TSFM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 3, 610505
Tags
Green Green List (high evidence)
TTC19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex III Deficiency
Tags
Green Green List (high evidence)
TUFM
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 4 610678
Tags
Green Green List (high evidence)
TWNK
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Progressive external ophthalmoplegia, autosomal dominant, 3, 609286
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
  • Mitochondrial DNA Depletion Syndrome
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic)
  • Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic)
  • Mitochondrial DNA Depletion Syndrome (biallelic)
Tags
Green Green List (high evidence)
TYMP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
  • Mitochondrial Neurogastrointestinal Encephalopathy Disease
Tags
Green Green List (high evidence)
UQCC2
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 7, 615824
Tags
Green Green List (high evidence)
UQCRB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 3, 615158
Tags
Green Green List (high evidence)
VARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 20, 615917
Tags
Green Green List (high evidence)
WARS2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
Tags
Green Green List (high evidence)
YARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Tags
Amber Amber List (moderate evidence)
ATP5A1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 22
  • ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5F1
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
ATP5H
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
ATP5J2
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
ATP5L
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
ATP5L2
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
ATPAF1
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COA3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
COA4
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COQ5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX11
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX16
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX17
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX18
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX19
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX6A2
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX6B2
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
CYCS
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombocytopenia 4, 612004
Tags
Amber Amber List (moderate evidence)
DCC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542
Tags
  • structural-variant
  • watchlist
Amber Amber List (moderate evidence)
ERAL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Perrault syndrome 6, 617565
Tags
Amber Amber List (moderate evidence)
G6PC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Glycogen storage disease Ia
Tags
Amber Amber List (moderate evidence)
GATB
3 reviews
1 red
Not set
Sources
  • Expert list
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Amber Amber List (moderate evidence)
GATC
2 reviews
Not set
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Amber Amber List (moderate evidence)
IDH3A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa with macular pseudocoloboma
  • Infantile encephalopathy
Tags
Amber Amber List (moderate evidence)
IDH3B
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 46, 612572
Tags
Amber Amber List (moderate evidence)
MRM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
MRPS14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
MRPS16
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 2, 610498
Tags
Amber Amber List (moderate evidence)
MT-RNR2
3 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert Review Amber
  • UKGTN
Tags
  • locus-type-rna-ribosomal
Amber Amber List (moderate evidence)
MT-TT
3 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert Review Amber
  • UKGTN
Tags
Amber Amber List (moderate evidence)
NDUFAF7
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFB9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • ?Mitochondrial complex I deficiency, 252010
Tags
Amber Amber List (moderate evidence)
NSUN3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
PITRM1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • mental retardation, spinocerebellar ataxia, cognitive decline and psychosis
Tags
Amber Amber List (moderate evidence)
POLRMT
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
PTCD3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
QARS
4 reviews
1 green
Not set
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
SDHAF3
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
SDHAF4
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
SDHB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex II deficiency
  • Paragangliomas 4, 115310
  • Pheochromocytoma, 171300
  • Paraganglioma and gastric stromal sarcoma, 606864
  • Cowden syndrome 2, 612359
  • Gastrointestinal stromal tumor, 606764
  • Mitochondrial Diseases
Tags
Amber Amber List (moderate evidence)
SLC25A21
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
SPATA5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epilepsy, hearing loss, and mental retardation syndrome 616577
Tags
Amber Amber List (moderate evidence)
TARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Combined oxidative phosphorylation deficiency 21, 615918
Tags
Amber Amber List (moderate evidence)
TFAM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156
Tags
Amber Amber List (moderate evidence)
TIMM22
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
TIMMDC1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 31, 618251
Tags
Amber Amber List (moderate evidence)
TMEM65
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCC1
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex III deficiency
  • ?Mitochondrial complex III deficiency, nuclear type, 616111
Tags
  • watchlist
Amber Amber List (moderate evidence)
UQCR10
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCR11
1 review
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCRC2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 5, 615160
Tags
Amber Amber List (moderate evidence)
UQCRQ
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 4, 615159
Tags
Amber Amber List (moderate evidence)
XPNPEP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • nephronophthisis-like nephropathy
Tags
Amber Amber List (moderate evidence)
YME1L1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Optic atrophy 11, 617302
Tags
Red Red List (low evidence)
ABCB6
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Dyschromatosis universalis hereditaria 3 615402
  • Microphthalmia, isolated, with coloboma 7 614497
  • Pseudohyperkalemia, familial, 2, due to red cell leak 609153
Tags
Red Red List (low evidence)
ACADM
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
Tags
Red Red List (low evidence)
ACADS
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470
Tags
Red Red List (low evidence)
ACADSB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • 2-methylbutyrylglycinuria, 610006
Tags
Red Red List (low evidence)
ACADVL
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • VLCAD deficiency, 201475
Tags
Red Red List (low evidence)
ACAT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Alpha-methylacetoacetic aciduria, 203750
Tags
Red Red List (low evidence)
AK2
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Reticular dysgenesis 267500
Tags
Red Red List (low evidence)
ALAS2
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Anemia, sideroblastic, 1 300751
  • Protoporphyria, erythropoietic, X-linked 300752
Tags
Red Red List (low evidence)
ALDH18A1
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Cutis laxa, autosomal dominant 3 616603
  • Cutis laxa, autosomal recessive, type IIIA 219150
  • Spastic paraplegia 9A, autosomal dominant 601162
  • Spastic paraplegia 9B, autosomal recessive 616586
Tags
Red Red List (low evidence)
ALDH1B1
2 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Succinic semialdehyde dehydrogenase deficiency
Tags
Red Red List (low evidence)
ATAD3B
2 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Influence on AIDS progression
Tags
Red Red List (low evidence)
ATP5B
3 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5C1
3 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5E
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5G1
3 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5G2
3 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5G3
3 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5I
3 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5J
3 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
ATP5O
3 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Red Red List (low evidence)
BDH1
1 review
1 red
Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
BOLA1
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
BOLA2
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
C19orf12
6 reviews
1 green 3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurodegeneration with brain iron accumulation 4, 614298
  • Mitochondrial Membrane Protein-Associated Neurodegeneration
Tags
Red Red List (low evidence)
CEP89
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • isolated complex IV deficiency, intellectual disability and multisystemic problems
Tags
Red Red List (low evidence)
CHKB
6 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, congenital, megaconial type, 602541
Tags
Red Red List (low evidence)
CISD2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Wolfram syndrome 2, 604928
Tags
Red Red List (low evidence)
CLPX
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • ?Protoporphyria, erythropoietic, 2 618015
Tags
Red Red List (low evidence)
COA1
2 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COA5
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500
Tags
Red Red List (low evidence)
COASY
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Neurodegeneration with brain iron accumulation 6, 615643
  • Pontocerebellar hypoplasia, type 12, 618266
Tags
Red Red List (low evidence)
COX4I1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Mitochondrial Diseases
Tags
Red Red List (low evidence)
COX4I2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
  • Mitochondrial Diseases
Tags
Red Red List (low evidence)
COX5A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX5B
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX6C
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX7A1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX7A2
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX7B2
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?{Nasopharyngeal carcinoma, susceptibility to}, 607107
Tags
Red Red List (low evidence)
COX7C
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
COX8A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Mitochondrial complex IV deficiency 220110
Tags
Red Red List (low evidence)
CPT1A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • CPT deficiency, hepatic, type IA, 255120
Tags
Red Red List (low evidence)
CPT2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • CPT II deficiency, myopathic, stress-induced, 255110
Tags
Red Red List (low evidence)
CRAT
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • ?Neurodegeneration with brain iron accumulation 8 617917
Tags
Red Red List (low evidence)
CTBP1
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915
Tags
Red Red List (low evidence)
CYP24A1
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Hypercalcemia, infantile, 1 143880
Tags
Red Red List (low evidence)
D2HGDH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • D-2-hydroxyglutaric aciduria, 600721
Tags
Red Red List (low evidence)
DARS
7 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Tags
  • new-gene-name
Red Red List (low evidence)
DHTKD1
6 reviews
1 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 2-aminoadipic and 2-oxoadipic aciduria, 204750
Tags
Red Red List (low evidence)
DIABLO
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 64 614152
Tags
Red Red List (low evidence)
DIAPH1
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 1 124900
  • Seizures, cortical blindness, microcephaly syndrome 616632
Tags
Red Red List (low evidence)
DLST
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype?Familial Alzheimer disease
Tags
Red Red List (low evidence)
DTD1
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
DYM
2 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
Tags
Red Red List (low evidence)
ECSIT
2 reviews
Not set
Sources
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Tags
Red Red List (low evidence)
ERCC6L2
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
ETFA
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Glutaric acidemia IIA ,231680
Tags
Red Red List (low evidence)
ETFB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Glutaric acidemia IIB ,231680
Tags
Red Red List (low evidence)
FA2H
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Spastic paraplegia 35, autosomal recessive 612319
Tags
Red Red List (low evidence)
FBP2
1 review
Unknown
Sources
  • Expert Review
Phenotypes
  • isolated lactic acidosis
Tags
Red Red List (low evidence)
FGF12
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 47 617166
Tags
Red Red List (low evidence)
FXN
7 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Friedreich ataxia, 229300
  • Friedreich ataxia with retained reflexes, 229300
Tags
Red Red List (low evidence)
FXN_GAA
STR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Friedreich ataxia 229300
Tags
  • STR
Red Red List (low evidence)
GATM
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebral creatine deficiency syndrome 3, 612718
  • arginine:glycine amidinotransferase deficiency
Tags
Red Red List (low evidence)
GLUD1
5 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
Tags
Red Red List (low evidence)
GUF1
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • ?Epileptic encephalopathy, early infantile, 40 617065
Tags
Red Red List (low evidence)
HADH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
  • Hyperinsulinemic hypoglycemia, familial, 4, 609975
Tags
Red Red List (low evidence)
HADHA
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • LCHAD deficiency, 609016
  • Trifunctional protein deficiency, 609015
Tags
Red Red List (low evidence)
HADHB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Trifunctional protein deficiency, 609015
Tags
Red Red List (low evidence)
HMGCL
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • HMG-CoA lyase deficiency, 246450
  • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  • HMGCLD
Tags
Red Red List (low evidence)
HMGCS2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • HMG-CoA synthase-2 deficiency, 605911
Tags
Red Red List (low evidence)
HSPA9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
  • Epiphyseal, Vertebral, Ear, Nose, plus associated findings
Tags
Red Red List (low evidence)
HSPE1
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Neurological and Developmental Disorder
Tags
Red Red List (low evidence)
HTT
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Huntington disease, 143100
Tags
Red Red List (low evidence)
IARS
2 reviews
Not set
Sources
  • Expert list
Tags
  • new-gene-name
Red Red List (low evidence)
IER3IP1
5 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • MEDS
Tags
Red Red List (low evidence)
KIF5A
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Myoclonus, intractable, neonatal 617235
  • Spastic paraplegia 10, autosomal dominant 604187
  • {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921
Tags
Red Red List (low evidence)
L2HGDH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • L-2-hydroxyglutaric aciduria, 236792
Tags
Red Red List (low evidence)
LACTB
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
LARS
2 reviews
1 green
Not set
Sources
  • Expert
Tags
  • new-gene-name
Red Red List (low evidence)
LETM1
2 reviews
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Red Red List (low evidence)
LYRM4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 19, 615595
Tags
Red Red List (low evidence)
MICU2
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • severe cognitive impairment and spasticity
Tags
Red Red List (low evidence)
MRPL12
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • No OMIM phenotype
Tags
Red Red List (low evidence)
MRPL40
2 reviews
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
MRPS23
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • hepatic disease and combined respiratory chain complex deficiencies
Tags
Red Red List (low evidence)
MRPS7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Combined oxidative phosphorylation deficiency 34, 617872
Tags
Red Red List (low evidence)
NAXD
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321
Tags
Red Red List (low evidence)
NDUFA12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Tags
Red Red List (low evidence)
NDUFA13
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial Diseases
  • ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Tags
Red Red List (low evidence)
NDUFA3
1 review
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NDUFA5
1 review
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NDUFA7
1 review
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NDUFA8
3 reviews
Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
  • Mitochondrial Diseases
Tags
Red Red List (low evidence)
NDUFAB1
1 review
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NDUFB1
1 review
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NDUFB10
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NDUFB2
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFB4
1 review
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NDUFB5
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFB6
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Isolated complex I deficiency
Tags
Red Red List (low evidence)
NDUFB7
1 review
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NDUFC1
1 review
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NDUFC2
1 review
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NDUFS5
2 reviews
Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
  • Mitochondrial Diseases
Tags
Red Red List (low evidence)
NDUFV3
2 reviews
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
  • Mitochondrial Diseases
Tags
Red Red List (low evidence)
NFS1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
NNT
1 review
1 green
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
OGDH
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)
Tags
Red Red List (low evidence)
OXA1L
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
OXCT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050
Tags
Red Red List (low evidence)
PAM16
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320
Tags
Red Red List (low evidence)
PANK2
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236
Tags
Red Red List (low evidence)
PDE12
1 review
1 red
Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
PDK1
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
PDK2
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
PDK3
2 reviews
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905
Tags
Red Red List (low evidence)
PDK4
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
PDP2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Other
Tags
Red Red List (low evidence)
PDPR
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Literature
Tags
Red Red List (low evidence)
PET117
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
PLA2G6
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Infantile neuroaxonal dystrophy 1 256600
  • Neurodegeneration with brain iron accumulation 2B 610217
  • Parkinson disease 14, autosomal recessive 612953
Tags
Red Red List (low evidence)
PNPLA4
1 review
1 red
Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
POP1
1 review
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
PPOX
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Porphyria variegata, 176200
Tags
Red Red List (low evidence)
PTCD1
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Red Red List (low evidence)
PTRH2
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263
Tags
Red Red List (low evidence)
PYCR1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IIB, 612940
  • Cutis laxa, autosomal recessive, type IIIB, 614438
Tags
Red Red List (low evidence)
ROBO3
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Tags
Red Red List (low evidence)
SAMHD1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Aicardi-Goutieres syndrome-5 (AGS5)
Tags
Red Red List (low evidence)
SDHAF2
3 reviews
1 green 1 red
Not set
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
Phenotypes
  • Mitochondrial Diseases
  • Isolated complex II deficiency
Tags
Red Red List (low evidence)
SDHC
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert list
Phenotypes
  • Mitochondrial Diseases
  • Isolated complex II deficiency
Tags
Red Red List (low evidence)
SECISBP2
1 review
1 red
Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
SEPSECS
1 review
1 red
Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
SLC22A5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Carnitine deficiency, systemic primary, 212140
Tags
Red Red List (low evidence)
SLC25A10
1 review
1 red
Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
SLC25A13
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Citrullinemia, adult-onset type II, 603471
  • Citrullinemia, type II, neonatal-onset, 605814
Tags
Red Red List (low evidence)
SLC25A20
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency, 212138
Tags
Red Red List (low evidence)
SLC25A22
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 3, 609304
Tags
Red Red List (low evidence)
SLC25A24
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Fontaine progeroid syndrome 612289
Tags
Red Red List (low evidence)
SLC25A40
1 review
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
SLC33A1
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Congenital cataracts, hearing loss, and neurodegeneration 614482
  • Spastic paraplegia 42, autosomal dominant 612539
Tags
Red Red List (low evidence)
SLC39A8
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type IIn 616721
Tags
Red Red List (low evidence)
SLC44A1
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy
Tags
Red Red List (low evidence)
SLC52A2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2, 614707
Tags
Red Red List (low evidence)
SLC52A3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1, 211530
Tags
Red Red List (low evidence)
SRRT
2 reviews
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
Red Red List (low evidence)
SSBP1
1 review
1 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
STAT2
7 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • severe neurological deterioration following viral infection
  • elongated mitochondria
  • Immunodeficiency 44, 616636
Tags
Red Red List (low evidence)
STXBP1
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 4 612164
Tags
Red Red List (low evidence)
SUCLG2
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
TANGO2
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Tags
Red Red List (low evidence)
TIMM44
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
TMEM126A
1 review
1 green
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Optic atrophy-7, 612989
Tags
Red Red List (low evidence)
TRAK1
1 review
1 red
Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
TRAP1
1 review
1 green
Not set
Sources
  • Expert
Tags
Red Red List (low evidence)
TXN2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy
  • ?Combined oxidative phosphorylation deficiency 29
Tags
Red Red List (low evidence)
UQCRC1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
UQCRFS1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
UQCRH
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
USMG5
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Autosomal recessive Leigh syndrome
Tags
  • founder-effect
Red Red List (low evidence)
VPS13C
5 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Parkinson disease 23, autosomal recessive, early onset, 616840
Tags
Red Red List (low evidence)
WFS1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Wolfram syndrome 1, 222300
  • Deafness, autosomal dominant 6/14/38, 600965
  • Wolfram-like syndrome, autosomal dominant, 614296
Tags
Red Red List (low evidence)
XRCC4
1 review
1 red
Not set
Sources
  • Expert list
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction 616541
Tags

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