Description
This is a combined panel for Mitochondrial disorders.

This includes the disorders:
- Mitochondrial disorders
- Lactic Acidosis

See individual eligibility statements for these disorders, available here: https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents

9 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: Genomics England

  • 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

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

344 genes

344 reviewed, 205 green

List Gene Reviews Mode of inheritance Details
344 genes
Green Green List (high evidence)
COQ8A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 4, 612016
  • Coenzyme Q10 deficiency
Green Green List (high evidence)
AARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 8, 614096
  • infantile mitochondrial cardiomyopathy
Green Green List (high evidence)
ABAT
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • mtDNA depletion syndrome
  • 613163
Green Green List (high evidence)
ABCB7
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
  • Expert list
  • Expert
Phenotypes
  • Disorders of iron homeostasis
  • Anemia, sideroblastic, with ataxia
  • congenital cerebellar hypoplasia/atrophy (PMID: 26242992).
Green Green List (high evidence)
ACAD9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • ACAD9 deficiency, 611126
  • Mitochondrial complex I deficiency due to ACAD9 deficiency
Green Green List (high evidence)
ACO2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559
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 Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Spinocerebellar ataxia 28, 610246
  • Ataxia, spastic, 5, autosomal recessive, 614487
Green Green List (high evidence)
AGK
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
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
Green Green List (high evidence)
AIFM1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of mitochondrial apoptosis
  • Combined oxidative phosphorylation deficiency 6, 300816
  • Cowchock syndrome, 310490
Green Green List (high evidence)
ANO10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, 613728
Green Green List (high evidence)
APOPT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
Green Green List (high evidence)
APTX
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
  • Ataxia with oculomotor apraxia 1
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
Phenotypes
  • Harel-Yoon syndrome 617183
Green Green List (high evidence)
ATPAF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 1, 124000Leigh syndrome, 256000Bjornstad syndrome, 262000GRACILE syndrome, 603358
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex III Deficiency
Green Green List (high evidence)
BOLA3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of iron homeostasis
  • Multiple mitochondrial dysfunctions syndrome 2, 614299
  • Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366)
  • Multiple Mitochondrial Dysfunctions Syndrome
Green Green List (high evidence)
BTD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Biotinidase deficiency
Green Green List (high evidence)
C12orf65
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 7, 613559
  • Spastic paraplegia 55, autosomal recessive, 615035
Green Green List (high evidence)
C19orf12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurodegeneration with brain iron accumulation 4, 614298
  • Mitochondrial Membrane Protein-Associated Neurodegeneration
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
Phenotypes
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • Spinal muscular atrophy, Jokela type
Green Green List (high evidence)
CHKB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, congenital, megaconial type, 602541
Green Green List (high evidence)
CLPB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
Green Green List (high evidence)
CLPP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Perrault syndrome 3, 614129
Green Green List (high evidence)
COQ2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Expert Review Green
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 1, 607426
  • Coenzyme Q10 deficiency
  • {Multiple system atrophy, susceptibility to}, 146500
Green Green List (high evidence)
COQ4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7
  • Disorders of ubiquinone metabolism and biosynthesis
Green Green List (high evidence)
COQ6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Expert Review Green
Phenotypes
  • Steroid-resistant nephrotic syndrome
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 6, 614650
Green Green List (high evidence)
COQ8B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 9
Green Green List (high evidence)
COQ9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
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
Green Green List (high evidence)
COX14
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
Green Green List (high evidence)
COX15
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex IV deficiency
  • Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Green Green List (high evidence)
COX20
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
Green Green List (high evidence)
COX6A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Green Green List (high evidence)
COX6B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex IV deficiency
  • Cytochrome c oxidase deficiency, 220110
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
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 Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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
Green Green List (high evidence)
CYC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 6, 615453
Green Green List (high evidence)
DARS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Green Green List (high evidence)
DARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Green Green List (high evidence)
DGUOK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Mitochondrial DNA Depletion Syndrome
Green Green List (high evidence)
DHTKD1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 2-aminoadipic and 2-oxoadipic aciduria, 204750
Green Green List (high evidence)
DLAT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pyruvate dehydrogenase E2 deficiency, 245348
Green Green List (high evidence)
DLD
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dihydrolipoamide dehydrogenase deficiency, 246900
  • Leigh syndrome
Green Green List (high evidence)
DNA2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6
  • 615156
Green Green List (high evidence)
DNAJC19
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Disorders of the mitochondrial import system
  • 3-methylglutaconic aciduria, type V, 610198
Green Green List (high evidence)
DNM1L
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388
Green Green List (high evidence)
EARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 12, 614924
Green Green List (high evidence)
ECHS1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Green Green List (high evidence)
ELAC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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
Green Green List (high evidence)
ETFDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • GLUTARIC ACIDURIA TYPE 2C
  • Glutaric acidemia IIC
Green Green List (high evidence)
ETHE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex IV deficiency
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Ethylmalonic encephalopathy, 602473
  • Ethylmalonic encephalopathy
Green Green List (high evidence)
FARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 14, 614946
Green Green List (high evidence)
FASTKD2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Green Green List (high evidence)
FBXL4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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.
Green Green List (high evidence)
FH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fumarase deficiency, 606812
Green Green List (high evidence)
FLAD1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Multiple acyl-CoA dehydrogenase deficiencies (MADDs)
Green Green List (high evidence)
FOXRED1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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
Green Green List (high evidence)
GARS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Charcot-Marie-Tooth disease, type 2D
  • Neuropathy, distal hereditary motor, type VA
Green Green List (high evidence)
GATM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebral creatine deficiency syndrome 3, 612718
  • arginine:glycine amidinotransferase deficiency
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 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
Green Green List (high evidence)
GFER
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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
Green Green List (high evidence)
GFM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 1, 609060
Green Green List (high evidence)
GLRX5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of iron homeostasis
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Green Green List (high evidence)
GLUD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
Green Green List (high evidence)
GTPBP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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
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 Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Microphthalmia, syndromic 7, 309801
  • Linear skin defects with multiple congenital anomalies 1
Green Green List (high evidence)
HIBCH
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620
  • HIBCH deficiency
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
Green Green List (high evidence)
HMGCL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
Phenotypes
  • HMG-CoA lyase deficiency, 246450
  • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  • HMGCLD
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
Phenotypes
  • Spastic paraplegia 13, autosomal dominant, 605280
  • Leukodystrophy, hypomyelinating, 4, 612233
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
Green Green List (high evidence)
IBA57
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • ?Multiple mitochondrial dysfunctions syndrome 3, 615330
  • ?Spastic paraplegia 74, autosomal recessive
Green Green List (high evidence)
IER3IP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • MEDS
Green Green List (high evidence)
KARS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
  • Deafness, autosomal recessive 89, 613916
Green Green List (high evidence)
LARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Perrault syndrome 4, 615300
  • Perrault syndrome
Green Green List (high evidence)
LIAS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462
Green Green List (high evidence)
LIPT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Lipoyltransferase 1 deficiency
Green Green List (high evidence)
LONP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
Green Green List (high evidence)
LRPPRC
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex IV deficiency
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Leigh syndrome, French-Canadian type, 220111
  • Mitochondrial Diseases
Green Green List (high evidence)
MARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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
Phenotypes
  • Epileptic encephalopathy, early infantile, 51 617339
Green Green List (high evidence)
MFF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Green Green List (high evidence)
MFN2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Charcot-Marie-Tooth disease, type 2A2, 609260
  • Hereditary motor and sensory neuropathy VI, 601152
Green Green List (high evidence)
MGME1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 11, 615084
Green Green List (high evidence)
MPV17
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3
  • Mitochondrial DNA Depletion Syndrome
Green Green List (high evidence)
MRPS22
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 5, 611719
Green Green List (high evidence)
MT-ATP6
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
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
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
Green Green List (high evidence)
MT-CO2
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • CYTOCHROME c OXIDASE DEFICIENCY
Green Green List (high evidence)
MT-CO3
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
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
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
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
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
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
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
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
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
Green Green List (high evidence)
MT-TD
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • MITOCHONDRIAL MYOPATHY, ISOLATED
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
Green Green List (high evidence)
MT-TF
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TG
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TH
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TI
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TK
3 reviews
2 green
MITOCHONDRIAL
Sources
  • UKGTN
  • Expert Review Green
  • Emory Genetics Laboratory
Green Green List (high evidence)
MT-TL1
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
Green Green List (high evidence)
MT-TL2
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TM
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TN
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TP
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TQ
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TR
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TS1
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TS2
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TV
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TW
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MT-TY
3 reviews
2 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Green Green List (high evidence)
MTO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 10, 614702
  • infantile hypertrophic cardiomyopathy and lactic acidosis.
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
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 24
Green Green List (high evidence)
NDUFA1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Expert Review Green
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
Green Green List (high evidence)
NDUFA10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome, 256000
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFA11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFAF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFAF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Leigh syndrome, 256000
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFAF3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFAF4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFAF5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex 1 deficiency, 252010
  • Mitochondrial Diseases
Green Green List (high evidence)
NDUFAF6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
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 Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • Linear skin defects with multiple congenital anomalies 3
  • histiocytoid cardiomyopathy
  • microphthalmia with linear skin defects syndrome
Green Green List (high evidence)
NDUFB3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
Green Green List (high evidence)
NDUFS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFS3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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
Green Green List (high evidence)
NDUFS4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFS6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • Complex I, mitochondrial respiratory chain, deficiency of, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFS7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome, 256000
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFS8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFV1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NDUFV2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Respiratory Chain Complex I Deficiency
Green Green List (high evidence)
NFU1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Expert Review Green
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 1
Green Green List (high evidence)
NUBPL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • Mitochondrial complex I deficiency, 252010
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex I Deficiency
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
  • UKGTN
  • Expert Review Green
  • Expert
  • Expert list
  • Radboud University Medical Center, Nijmegen
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
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
Phenotypes
  • 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
Green Green List (high evidence)
PC
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pyruvate carboxylase deficiency
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
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency, 312170
  • Leigh syndrome, X-linked, 308930
Green Green List (high evidence)
PDHB
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pyruvate dehydrogenase E1-beta deficiency, 614111
Green Green List (high evidence)
PDHX
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Lacticacidemia due to PDX1 deficiency
Green Green List (high evidence)
PDP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pyruvate dehydrogenase phosphatase deficiency, 608782
Green Green List (high evidence)
PDSS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 2, 614651
Green Green List (high evidence)
PDSS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of ubiquinone metabolism and biosynthesis
  • Coenzyme Q10 deficiency, primary, 3, 614652
Green Green List (high evidence)
PET100
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
  • Leigh syndrome
Green Green List (high evidence)
PMPCA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • non-progressive cerebellar ataxia
  • slowly progressive cerebellar ataxia
Green Green List (high evidence)
PNPT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Expert Review Green
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
Green Green List (high evidence)
POLG
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement exclusion criteria
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert
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
Green Green List (high evidence)
POLG2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
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
Green Green List (high evidence)
PPA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Green Green List (high evidence)
PYCR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cutis laxa, autosomal recessive, type IIB, 612940
  • Cutis laxa, autosomal recessive, type IIIB, 614438
Green Green List (high evidence)
RARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Pontocerebellar hypoplasia, type 6, 611523
Green Green List (high evidence)
RMND1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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
Green Green List (high evidence)
RNASEH1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Green Green List (high evidence)
ROBO3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Green Green List (high evidence)
RRM2B
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
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)
  • 5,613077Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075
  • Mitochondrial DNA Depletion Syndrome (recessive)
Green Green List (high evidence)
SACS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
  • Spastic ataxia, Charlevoix-Saguenay type
Green Green List (high evidence)
SAMHD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome-5 (AGS5)
Green Green List (high evidence)
SARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Green Green List (high evidence)
SCO1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex IV deficiency
  • Hepatic failure, early onset, and neurologic disorder
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Green Green List (high evidence)
SCO2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Isolated complex IV deficiency
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377Myopia 6, 608908
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex IV Deficiency
Green Green List (high evidence)
SDHA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
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
Green Green List (high evidence)
SDHAF1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex II deficiency
  • Mitochondrial complex II deficiency, 252011
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex II Deficiency
Green Green List (high evidence)
SDHB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Expert Review Green
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
Green Green List (high evidence)
SDHD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Isolated complex II deficiency
Green Green List (high evidence)
SERAC1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Green Green List (high evidence)
SLC19A2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thiamine-responsive megaloblastic anemia syndrome, 249270
Green Green List (high evidence)
SLC19A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483
Green Green List (high evidence)
SLC25A19
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly, Amish type, 607196
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
Green Green List (high evidence)
SLC25A22
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 3, 609304
Green Green List (high evidence)
SLC25A26
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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.
Green Green List (high evidence)
SLC25A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Mitochondrial phosphate carrier deficiency, 610773
Green Green List (high evidence)
SLC25A38
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • nonsyndromic autosomal recessive congenital sideroblastic anemia
  • congenital sideroblastic anemias
  • severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
Green Green List (high evidence)
SLC25A4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Disorders of mitochondrial protein transport
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
  • Progressive External Ophthalmoplegia with Mitochondrial DNADeletions
Green Green List (high evidence)
SLC25A46
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • optic atrophy spectrum disorder
Green Green List (high evidence)
SPG7
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Spastic paraplegia 7, autosomal recessive, 607259
Green Green List (high evidence)
SUCLA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073
  • Mitochondrial DNA Depletion Syndrome
Green Green List (high evidence)
SUCLG1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • UKGTN
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400
  • Mitochondrial DNA Depletion Syndrome
Green Green List (high evidence)
SURF1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex IV deficiency
  • Leigh syndrome, due to COX deficiency, 256000
  • Mitochondrial Diseases
  • Leigh Syndrome
  • Complex IV deficiency
Green Green List (high evidence)
TACO1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
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
Green Green List (high evidence)
TANGO2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Green Green List (high evidence)
TAZ
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Disorders of mitochondrial lipid metabolism
  • Barth syndrome, 302060
Green Green List (high evidence)
TIMM8A
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of the mitochondrial import system
  • Deafness, X-linked 1, progressive
  • Mohr-Tranebjaerg syndrome, 304700
  • Jensen syndrome, 311150
Green Green List (high evidence)
TK2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
  • Mitochondrial DNA Depletion Syndrome
Green Green List (high evidence)
TMEM70
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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
Green Green List (high evidence)
TPK1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458
Green Green List (high evidence)
TRMU
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • {Deafness, mitochondrial, modifier of}, 580000
  • Liver failure, transient infantile, 613070
Green Green List (high evidence)
TRNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD)
  • retinitis pigmentosa with erythrocytic microcytosis
Green Green List (high evidence)
TSFM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Combined oxidative phosphorylation deficiency 3, 610505
Green Green List (high evidence)
TTC19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
  • Mitochondrial Diseases
  • Mitochondrial Respiratory Chain Complex III Deficiency
Green Green List (high evidence)
TWNK
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial 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)
Green Green List (high evidence)
TYMP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
  • Mitochondrial Neurogastrointestinal Encephalopathy Disease
Green Green List (high evidence)
UQCRQ
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Emory Genetics Laboratory
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 4, 615159
  • Mitochondrial Respiratory Chain Complex III Deficiency
  • Mitochondrial Diseases
Green Green List (high evidence)
VARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 20, 615917
Green Green List (high evidence)
YARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Amber Amber List (moderate evidence)
COA3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Amber Amber List (moderate evidence)
COA6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?{Fatal infantile cardiomyopathy, association with}, 604377
Amber Amber List (moderate evidence)
CYCS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thrombocytopenia 4, 612004
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
  • watchlist
  • structural-variant
Amber Amber List (moderate evidence)
G6PC
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Glycogen storage disease Ia
Amber Amber List (moderate evidence)
IARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S)
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
Amber Amber List (moderate evidence)
NDUFA4
1 review
1 green
Not set
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex IV deficiency
  • No OMIM phenotype
Amber Amber List (moderate evidence)
NDUFB9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • ?Mitochondrial complex I deficiency, 252010
Amber Amber List (moderate evidence)
PARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • No OMIM phenotype
  • Alpers syndrome.
Amber Amber List (moderate evidence)
PDPR
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Amber Amber List (moderate evidence)
QARS
2 reviews
1 green
Not set
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Amber Amber List (moderate evidence)
TARS2
2 reviews
1 green
Not set
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Combined oxidative phosphorylation deficiency 21, 615918
Amber Amber List (moderate evidence)
TMEM126B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Isolated complex I deficiency
Amber Amber List (moderate evidence)
TUFM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 4, 610678
Amber Amber List (moderate evidence)
UQCRB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
  • Expert Review Amber
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 3, 615158
  • Mitochondrial Diseases
Amber Amber List (moderate evidence)
XPNPEP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • nephronophthisis-like nephropathy
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
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
Red Red List (low evidence)
ATP5A1
3 reviews
1 green
Not set
Sources
  • Expert list
  • Expert
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 22
  • ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4
Tags
  • new-gene-name
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
3 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
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)
BOLA1
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
BOLA2
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
CARS2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • No OMIM phenotype
Red Red List (low evidence)
CEP89
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • isolated complex IV deficiency, intellectual disability and multisystemic problems
Red Red List (low evidence)
COA1
2 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
COA5
3 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex IV deficiency
  • Mitochondrial complex IV deficiency, 220110
  • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Red Red List (low evidence)
COQ7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • primary coenzyme Q10 deficiency
  • complex multisystem presentation
Red Red List (low evidence)
COX4I1
2 reviews
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Mitochondrial Diseases
Red Red List (low evidence)
COX4I2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
  • Mitochondrial Diseases
Red Red List (low evidence)
COX5A
2 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
COX5B
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
COX6C
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
COX7A1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
COX7A2
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
COX7B2
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?{Nasopharyngeal carcinoma, susceptibility to}, 607107
Red Red List (low evidence)
COX7C
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
COX8A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Leigh-like syndrome and epilepsy
Red Red List (low evidence)
DLST
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype?Familial Alzheimer disease
Red Red List (low evidence)
DNM2
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Disorders of mitochondrial DNA maintenance and integrity
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
Red Red List (low evidence)
ECSIT
1 review
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Red Red List (low evidence)
FBP2
1 review
Unknown
Sources
  • Expert Review
Phenotypes
  • isolated lactic acidosis
Red Red List (low evidence)
FDX2
3 reviews
1 green
Unknown
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype?Mitochondrial myopathy with lactic acidosis, association with, 255125
Red Red List (low evidence)
FXN
2 reviews
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
  • Expert Review Red
Phenotypes
  • Friedreich ataxia, 229300Friedreich ataxia with retained reflexes, 229300
Red Red List (low evidence)
GATB
2 reviews
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Red Red List (low evidence)
GATC
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Red Red List (low evidence)
GFM2
1 review
1 green
Not set
Sources
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Red Red List (low evidence)
HARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Perrault syndrome 2, 614926
Red Red List (low evidence)
HSPA9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
  • Epiphyseal, Vertebral, Ear, Nose, plus associated findings
Red Red List (low evidence)
ISCA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • infantile neurodegenerative mitochondrial disorder
Tags
  • founder-effect
Red Red List (low evidence)
ISCU
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Disorders of iron homeostasis
  • Myopathy with lactic acidosis, hereditary, 255125
Red Red List (low evidence)
LACTB
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
LARS
1 review
1 green
Not set
Sources
  • Expert
Red Red List (low evidence)
LETM1
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Red Red List (low evidence)
LIPT2
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Red Red List (low evidence)
LYRM4
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 19, 615595
Red Red List (low evidence)
LYRM7
2 reviews
2 green
Not set
Sources
  • Expert list
  • Expert
Phenotypes
  • Isolated complex III deficiency
Tags
  • watchlist
Red Red List (low evidence)
MPC1
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mitochondrial pyruvate carrier deficiency, 614741
Red Red List (low evidence)
MRPL12
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • No OMIM phenotype
Red Red List (low evidence)
MRPL3
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 9, 614582
Red Red List (low evidence)
MRPL40
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
MRPL44
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • ?Combined oxidative phosphorylation deficiency 16, 615395
Red Red List (low evidence)
MRPS16
2 reviews
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 2, 610498
Red Red List (low evidence)
MRPS2
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
MRPS23
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • hepatic disease and combined respiratory chain complex deficiencies
Red Red List (low evidence)
MRPS7
1 review
1 green
Not set
Sources
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Red Red List (low evidence)
MTFMT
2 reviews
2 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 15, 614947
Tags
  • watchlist
Red Red List (low evidence)
MTPAP
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Ataxia, spastic, 4, 613672
Red Red List (low evidence)
NADK2
1 review
1 green
Not set
Sources
  • Expert
Red Red List (low evidence)
NDUFA12
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex 1 deficiency, 256000
Red Red List (low evidence)
NDUFA13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Red
Phenotypes
  • Isolated complex I deficiency
  • {Thyroid carcinoma, Hurthle cell}, 607464
  • Mitochondrial Diseases
Red Red List (low evidence)
NDUFA3
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Red Red List (low evidence)
NDUFA5
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Red Red List (low evidence)
NDUFA6
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
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
Red Red List (low evidence)
NDUFA8
2 reviews
Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
  • Mitochondrial Diseases
Red Red List (low evidence)
NDUFA9
1 review
1 green
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3
Red Red List (low evidence)
NDUFAB1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Red Red List (low evidence)
NDUFB1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Red Red List (low evidence)
NDUFB10
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Red Red List (low evidence)
NDUFB2
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Isolated complex I deficiency
Red Red List (low evidence)
NDUFB4
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Red Red List (low evidence)
NDUFB5
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Isolated complex I deficiency
Red Red List (low evidence)
NDUFB6
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Isolated complex I deficiency
Red Red List (low evidence)
NDUFB7
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Red Red List (low evidence)
NDUFB8
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Red Red List (low evidence)
NDUFC1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Red Red List (low evidence)
NDUFC2
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
Red Red List (low evidence)
NDUFS5
2 reviews
Not set
Sources
  • Expert list
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
  • Mitochondrial Diseases
Red Red List (low evidence)
NDUFV3
2 reviews
Unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex I deficiency
  • No OMIM phenotype
  • Mitochondrial Diseases
Red Red List (low evidence)
NFS1
1 review
1 green
Not set
Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
NNT
1 review
1 green
Not set
Sources
  • Expert
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)
Red Red List (low evidence)
OXA1L
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
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
Red Red List (low evidence)
PDK1
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
PDK2
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
PDK3
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905
Red Red List (low evidence)
PDK4
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
PDP2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Red Red List (low evidence)
PITRM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • mental retardation, spinocerebellar ataxia, cognitive decline and psychosis
Red Red List (low evidence)
POP1
1 review
Not set
Sources
  • Expert
Red Red List (low evidence)
PTCD1
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Red Red List (low evidence)
PUS1
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Mitochondrial myopathy and sideroblastic anemia 1, 600462
Red Red List (low evidence)
QRSL1
1 review
1 green
Not set
Sources
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Red Red List (low evidence)
SDHAF2
1 review
1 green
Not set
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert
Phenotypes
  • Mitochondrial Diseases
  • Isolated complex II deficiency
Red Red List (low evidence)
SDHC
1 review
1 green
Not set
Sources
  • Expert list
  • Expert
  • Emory Genetics Laboratory
Phenotypes
  • Mitochondrial Diseases
  • Isolated complex II deficiency
Red Red List (low evidence)
SFXN4
1 review
1 green
Not set
Sources
  • Expert
Red Red List (low evidence)
SLC25A1
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Disorders of mitochondrial protein transport
  • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
Red Red List (low evidence)
SLC25A12
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypomyelination, global cerebral, 612949
Red Red List (low evidence)
SLC25A13
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814
Red Red List (low evidence)
SLC25A40
1 review
Not set
Sources
  • Expert
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)
Red Red List (low evidence)
STAT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • severe neurological deterioration following viral infection
  • elongated mitochondria
Red Red List (low evidence)
SUCLG2
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
TIMM44
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
TMEM126A
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Optic atrophy-7, 612989
Red Red List (low evidence)
TRAP1
1 review
1 green
Not set
Sources
  • Expert
Red Red List (low evidence)
TRIT1
1 review
1 green
Not set
Sources
  • Expert list
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Red Red List (low evidence)
TRMT10C
2 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Red Red List (low evidence)
TRMT5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Multiple Respiratory-Chain Deficiencies
Red Red List (low evidence)
TXN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy
  • ?Combined oxidative phosphorylation deficiency 29
Red Red List (low evidence)
UQCC2
1 review
1 green
Not set
Sources
  • Expert list
  • Expert
Phenotypes
  • Isolated complex III deficiency
Red Red List (low evidence)
UQCC3
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Isolated complex III deficiency
  • ?Mitochondrial complex III deficiency, nuclear type, 616111
Red Red List (low evidence)
UQCRC1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
UQCRC2
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert
Phenotypes
  • Isolated complex III deficiency
  • Mitochondrial complex III deficiency, nuclear type 5, 615160
Red Red List (low evidence)
UQCRFS1
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
UQCRH
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
Red Red List (low evidence)
WARS2
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)

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List STR Reviews Mode of inheritance Details
0 STRss

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