Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R63 Possible mitochondrial disorder - nuclear genes' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R63 Possible mitochondrial disorder - nuclear genes'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs and STRs may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

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


The content of this panel (version 1.12: https://panelapp.genomicsengland.co.uk/api/v1/panels/539/?version=1.12) was signed off under NHS Genomic Medicine Service governance on (16/09/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

11 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Katherine Smith (Genomics England)

    Group: Other
    Workplace: Other

  • Carl Fratter (Oxford University Hospitals NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Shamima Rahman (UCL Institute of Child Health)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

374 Entities

374 reviewed, 214 green

List Entity Reviews Mode of inheritance Details
374 Entitiess
Green Green List (high evidence)
AARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 8, 614096
  • Leukoencephalopathy, progressive, with ovarian failure, 615889
Tags
Green Green List (high evidence)
ABAT
5 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome
Tags
Green Green List (high evidence)
ABCB7
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Anemia, sideroblastic, with ataxia, 301310
Tags
Green Green List (high evidence)
ACAD9
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, 611126
Tags
Green Green List (high evidence)
ACO2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Infantile cerebellar-retinal degeneration, 614559
Tags
Green Green List (high evidence)
AFG3L2
4 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions
Tags
Green Green List (high evidence)
AGK
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350
Tags
Green Green List (high evidence)
AIFM1
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 6, 300816
Tags
Green Green List (high evidence)
ANO10
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10, 613728
Tags
Green Green List (high evidence)
APOPT1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
  • new-gene-name
Green Green List (high evidence)
APTX
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
Tags
Green Green List (high evidence)
ATAD3A
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Harel-Yoon syndrome, 617183
Tags
Green Green List (high evidence)
ATP5D
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, 618120
Tags
  • new-gene-name
Green Green List (high evidence)
ATPAF2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273
Tags
Green Green List (high evidence)
BCS1L
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 1, 124000
  • Leigh syndrome, 256000
Tags
Green Green List (high evidence)
BOLA3
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299
Tags
Green Green List (high evidence)
BTD
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Biotinidase deficiency, 253260
Tags
Green Green List (high evidence)
C12orf65
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 7, 613559
  • Spastic paraplegia 55, autosomal recessive, 615035
Tags
Green Green List (high evidence)
C19orf70
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Green Green List (high evidence)
C1QBP
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 33, 617713
Tags
Green Green List (high evidence)
CA5A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
Tags
Green Green List (high evidence)
CARS2
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 27, 616672
Tags
Green Green List (high evidence)
CHCHD10
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinal muscular atrophy, Jokela type 615048
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911
  • ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Tags
Green Green List (high evidence)
CLPB
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
Tags
Green Green List (high evidence)
CLPP
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Perrault syndrome 3, 614129
Tags
Green Green List (high evidence)
COA6
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501
Tags
Green Green List (high evidence)
COA7
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Tags
Green Green List (high evidence)
COQ2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, 607426
Tags
Green Green List (high evidence)
COQ4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7, 616276
Tags
Green Green List (high evidence)
COQ6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6, 614650
Tags
Green Green List (high evidence)
COQ7
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 8 616733
Tags
Green Green List (high evidence)
COQ8A
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4, 612016
Tags
Green Green List (high evidence)
COQ8B
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 9, 615573
Tags
Green Green List (high evidence)
COQ9
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5, 614654
Tags
Green Green List (high evidence)
COX10
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX14
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX15
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leigh syndrome due to cytochrome c oxidase deficiency, 256000
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119
Tags
Green Green List (high evidence)
COX20
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX6A1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, recessive intermediate D, 616039
Tags
Green Green List (high evidence)
COX6B1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
COX7B
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
  • NHS GMS
Phenotypes
  • Linear skin defects with multiple congenital anomalies 2, 300887
Tags
Green Green List (high evidence)
CYC1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 6, 615453
Tags
Green Green List (high evidence)
DARS2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
Green Green List (high evidence)
DGUOK
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070
Tags
Green Green List (high evidence)
DLAT
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348
Tags
Green Green List (high evidence)
DLD
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900
Tags
Green Green List (high evidence)
DNA2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156
Tags
Green Green List (high evidence)
DNAJC19
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3-methylglutaconic aciduria, type V, 610198
Tags
Green Green List (high evidence)
DNM1L
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
  • Optic atrophy 5, 610708
Tags
Green Green List (high evidence)
DNM2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate B, 606482
  • Charcot-Marie-Tooth disease, axonal type 2M, 606482
  • Centronuclear myopathy 1, 160150
Tags
Green Green List (high evidence)
EARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, 614924
Tags
Green Green List (high evidence)
ECHS1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277
Tags
Green Green List (high evidence)
ELAC2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 17, 615440
Tags
Green Green List (high evidence)
ETFDH
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glutaric acidemia IIC, 231680
Tags
Green Green List (high evidence)
ETHE1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ethylmalonic encephalopathy, 602473
Tags
Green Green List (high evidence)
FARS2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 14, 614946
  • Spastic paraplegia 77, autosomal recessive, 617046
Tags
Green Green List (high evidence)
FASTKD2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
FBXL4
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
Tags
Green Green List (high evidence)
FDX2
7 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900
Tags
Green Green List (high evidence)
FDXR
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Auditory neuropathy and optic atrophy, 617717
Tags
Green Green List (high evidence)
FH
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fumarase deficiency 606812
Tags
Green Green List (high evidence)
FLAD1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100
Tags
Green Green List (high evidence)
FOXRED1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 19, 618241
Tags
Green Green List (high evidence)
GARS
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neuropathy, distal hereditary motor, type VA, 600794
  • Charcot-Marie-Tooth disease, type 2D, 601472
Tags
  • new-gene-name
Green Green List (high evidence)
GDAP1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2K, 607831
  • Charcot-Marie-Tooth disease, recessive intermediate, A, 608340
  • Charcot-Marie-Tooth disease, type 4A, 214400
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706
Tags
Green Green List (high evidence)
GFER
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076
Tags
Green Green List (high evidence)
GFM1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 1, 609060
Tags
Green Green List (high evidence)
GFM2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Tags
Green Green List (high evidence)
GLRX5
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859
  • ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
Tags
Green Green List (high evidence)
GTPBP3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 23, 61698
Tags
Green Green List (high evidence)
HARS2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Perrault syndrome 2, 614926
Tags
Green Green List (high evidence)
HCCS
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
  • NHS GMS
Phenotypes
  • Linear skin defects with multiple congenital anomalies 1, 309801
Tags
Green Green List (high evidence)
HIBCH
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620
Tags
Green Green List (high evidence)
HLCS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Holocarboxylase synthetase deficiency, 253270
Tags
Green Green List (high evidence)
HSD17B10
2 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
  • NHS GMS
Phenotypes
  • HSD10 mitochondrial disease, 300438
Tags
Green Green List (high evidence)
HSPD1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spastic paraplegia 13, autosomal dominant 605280
  • Leukodystrophy, hypomyelinating, 4, 612233
Tags
Green Green List (high evidence)
HTRA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3-methylglutaconic aciduria, type VIII, 617248
Tags
Green Green List (high evidence)
IARS2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007
Tags
Green Green List (high evidence)
IBA57
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330
Tags
Green Green List (high evidence)
ISCA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Tags
Green Green List (high evidence)
ISCA2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370
Tags
Green Green List (high evidence)
ISCU
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopathy with lactic acidosis, hereditary, 255125
Tags
  • founder-effect
  • non-coding-known-pathogenic
Green Green List (high evidence)
KARS
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Deafness, autosomal recessive 89 613916
  • ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641
Tags
  • new-gene-name
Green Green List (high evidence)
LARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021
  • Perrault syndrome 4, 615300
Tags
Green Green List (high evidence)
LIAS
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462
Tags
Green Green List (high evidence)
LIPT1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • LIPOYLTRANSFERASE 1 DEFICIENCY, 616299
Tags
Green Green List (high evidence)
LIPT2
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668
Tags
Green Green List (high evidence)
LONP1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • CODAS syndrome, 600373
Tags
Green Green List (high evidence)
LRPPRC
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Leigh syndrome, French-Canadian type, 220111
Tags
Green Green List (high evidence)
LYRM7
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 8, 615838
Tags
Green Green List (high evidence)
MARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spastic ataxia 3, autosomal recessive, 611390
  • ?Combined oxidative phosphorylation deficiency 25, 616430
Tags
Green Green List (high evidence)
MDH2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Epileptic encephalopathy, early infantile, 51, 617339
Tags
Green Green List (high evidence)
MECR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282
Tags
Green Green List (high evidence)
MFF
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086
Tags
Green Green List (high evidence)
MFN2
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome
  • Optic atrophy plus
Tags
Green Green List (high evidence)
MGME1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 11, 615084
Tags
Green Green List (high evidence)
MICU1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopathy with extrapyramidal signs, 615673
Tags
Green Green List (high evidence)
MIPEP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 31, 617228
Tags
Green Green List (high evidence)
MPC1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lactic acidosis and hyperpyruvatemia
Tags
Green Green List (high evidence)
MPV17
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
Tags
Green Green List (high evidence)
MRPL3
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 9, 614582
Tags
Green Green List (high evidence)
MRPL44
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 16, 615395
Tags
Green Green List (high evidence)
MRPS2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 36, 617950
Tags
Green Green List (high evidence)
MRPS22
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 5, 611719
Tags
Green Green List (high evidence)
MRPS34
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 32, 617664
Tags
Green Green List (high evidence)
MSTO1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopathy, mitochondrial, and ataxia, 617675
Tags
Green Green List (high evidence)
MTFMT
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 15, 614947
  • Mitochondrial complex I deficiency, nuclear type 27, 618248
Tags
Green Green List (high evidence)
MTO1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 10, 614702
Tags
Green Green List (high evidence)
MTPAP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Spastic ataxia 4, autosomal recessive, 613672
Tags
Green Green List (high evidence)
NADK2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?2,4-dienoyl-CoA reductase deficiency, 616034
Tags
Green Green List (high evidence)
NARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 24, 616239
Tags
Green Green List (high evidence)
NAXE
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186
Tags
Green Green List (high evidence)
NDUFA1
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
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 12, 301020
Tags
Green Green List (high evidence)
NDUFA10
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 22, 618243
Tags
Green Green List (high evidence)
NDUFA11
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 14, 618236
Tags
Green Green List (high evidence)
NDUFA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 13, 618235
Tags
Green Green List (high evidence)
NDUFA4
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • No OMIM phenotype
  • Mitochondrial complex IV deficiency
Tags
Green Green List (high evidence)
NDUFA6
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 33, 618253
Tags
Green Green List (high evidence)
NDUFA9
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 26, 618247
Tags
Green Green List (high evidence)
NDUFAF1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 11, 618234
Tags
Green Green List (high evidence)
NDUFAF2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 10, 618233
Tags
Green Green List (high evidence)
NDUFAF3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 18, 618240
Tags
Green Green List (high evidence)
NDUFAF4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 15, 618237
Tags
Green Green List (high evidence)
NDUFAF5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 16, 616238
Tags
Green Green List (high evidence)
NDUFAF6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 17, 612392
Tags
Green Green List (high evidence)
NDUFAF8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Green Green List (high evidence)
NDUFB11
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
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 30, 301021
  • Linear skin defects with multiple congenital anomalies 3, 300952
Tags
Green Green List (high evidence)
NDUFB3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 25, 618246
Tags
Green Green List (high evidence)
NDUFB8
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 32, 618252
Tags
Green Green List (high evidence)
NDUFS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 5, 618226
Tags
Green Green List (high evidence)
NDUFS2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 6, 618228
Tags
Green Green List (high evidence)
NDUFS3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 8, 618230
Tags
Green Green List (high evidence)
NDUFS4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 1, 252010
Tags
Green Green List (high evidence)
NDUFS6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 9, 618232
Tags
Green Green List (high evidence)
NDUFS7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 3, 618224
Tags
Green Green List (high evidence)
NDUFS8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 2, 618222
Tags
Green Green List (high evidence)
NDUFV1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 4, 618225
Tags
Green Green List (high evidence)
NDUFV2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 7, 618229
Tags
Green Green List (high evidence)
NFU1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711
Tags
Green Green List (high evidence)
NUBPL
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 21, 618242
Tags
Green Green List (high evidence)
OPA1
4 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Optic atrophy 1, 165500
  • Optic atrophy plus syndrome, 125250
Tags
Green Green List (high evidence)
OPA3
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3-methylglutaconic aciduria, type III, 258501
  • Optic atrophy 3 with cataract, 165300
Tags
Green Green List (high evidence)
PARS2
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Infantile-onset encephalopathy
  • Alpers syndrome
  • Infantile-onset neurodegenerative disorder
  • Epileptic encephalopathy, early infantile, 75, 61843
Tags
Green Green List (high evidence)
PC
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pyruvate carboxylase deficiency, 266150
Tags
Green Green List (high evidence)
PDHA1
4 reviews
3 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
  • NHS GMS
Phenotypes
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170
Tags
Green Green List (high evidence)
PDHB
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111
Tags
Green Green List (high evidence)
PDHX
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349
Tags
Green Green List (high evidence)
PDP1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782
Tags
Green Green List (high evidence)
PDSS1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 2, 614651
Tags
Green Green List (high evidence)
PDSS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 3, 614652
Tags
Green Green List (high evidence)
PET100
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
PMPCA
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200
Tags
Green Green List (high evidence)
PMPCB
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 6, 617954
Tags
Green Green List (high evidence)
PNPLA8
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Mitochondrial myopathy with lactic acidosis, 251950
Tags
Green Green List (high evidence)
PNPT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Deafness, autosomal recessive 70, 614934
  • Combined oxidative phosphorylation deficiency 13, 614932
Tags
Green Green List (high evidence)
POLG
4 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662
  • Progressive external ophthalmoplegia, autosomal dominant 1, 157640
  • Progressive external ophthalmoplegia, autosomal recessive 1, 258450
Tags
Green Green List (high evidence)
POLG2
3 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome, NA
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131
Tags
Green Green List (high evidence)
PPA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Sudden cardiac failure, infantile, 617222
  • ?Sudden cardiac failure, alcohol-induced, 617223
Tags
Green Green List (high evidence)
PUS1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462
Tags
Green Green List (high evidence)
QRSL1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial cardiomyopathy
Tags
Green Green List (high evidence)
RARS2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pontocerebellar hypoplasia, type 6, 611523
Tags
Green Green List (high evidence)
RMND1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 11, 614922
Tags
Green Green List (high evidence)
RNASEH1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Tags
Green Green List (high evidence)
RRM2B
3 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 612075
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type)
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Tags
Green Green List (high evidence)
RTN4IP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732
Tags
Green Green List (high evidence)
SACS
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type, 270550
Tags
Green Green List (high evidence)
SARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Tags
Green Green List (high evidence)
SCO1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
SCO2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Tags
Green Green List (high evidence)
SDHA
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial respiratory chain complex II deficiency, 252011
  • Leigh syndrome, 256000
Tags
Green Green List (high evidence)
SDHAF1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial respiratory chain complex II deficiency, 252011
Tags
Green Green List (high evidence)
SDHD
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial respiratory chain complex II deficiency, 252011
Tags
Green Green List (high evidence)
SERAC1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Tags
Green Green List (high evidence)
SFXN4
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 18, 615578
Tags
Green Green List (high evidence)
SLC19A2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270
Tags
Green Green List (high evidence)
SLC19A3
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483
Tags
Green Green List (high evidence)
SLC25A1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Myasthenic syndrome, congenital, 23, presynaptic, 618197
  • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
Tags
Green Green List (high evidence)
SLC25A12
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Epileptic encephalopathy, early infantile, 39, 612949
Tags
Green Green List (high evidence)
SLC25A19
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MICROCEPHALY, AMISH TYPE, 607196
  • THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710
Tags
Green Green List (high evidence)
SLC25A26
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794
Tags
Green Green List (high evidence)
SLC25A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial phosphate carrier deficiency, 610773
Tags
Green Green List (high evidence)
SLC25A32
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Exercise intolerance, riboflavin-responsive, 616839
Tags
  • treatable
Green Green List (high evidence)
SLC25A38
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
Tags
Green Green List (high evidence)
SLC25A4
3 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418
Tags
Green Green List (high evidence)
SLC25A42
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416
Tags
Green Green List (high evidence)
SLC25A46
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neuropathy, hereditary motor and sensory, type VIB, 616505
Tags
Green Green List (high evidence)
SPG7
4 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions
Tags
Green Green List (high evidence)
SUCLA2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Tags
Green Green List (high evidence)
SUCLG1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Tags
Green Green List (high evidence)
SURF1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, type 4K, 616684
  • Leigh syndrome, due to COX IV deficiency, 256000
Tags
Green Green List (high evidence)
TACO1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
TAZ
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Barth syndrome, 302060
Tags
Green Green List (high evidence)
TIMM50
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3-methylglutaconic aciduria, type IX, 617698
Tags
Green Green List (high evidence)
TIMM8A
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mohr-Tranebjaerg syndrome, 304700
Tags
Green Green List (high evidence)
TK2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069
Tags
Green Green List (high evidence)
TMEM126B
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 29, 618250
Tags
Green Green List (high evidence)
TMEM70
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Tags
Green Green List (high evidence)
TOP3A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Tags
Green Green List (high evidence)
TPK1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458
Tags
Green Green List (high evidence)
TRIT1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 35, 617873
Tags
Green Green List (high evidence)
TRMT10C
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 30, 616974
Tags
Green Green List (high evidence)
TRMT5
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 26, 616539
Tags
Green Green List (high evidence)
TRMU
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • LIVER FAILURE, INFANTILE, TRANSIENT, 613070
Tags
Green Green List (high evidence)
TRNT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084
  • Retinitis pigmentosa and erythrocytic microcytosis, 616959
Tags
Green Green List (high evidence)
TSFM
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 3, 610505
Tags
Green Green List (high evidence)
TTC19
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
Tags
Green Green List (high evidence)
TUFM
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 4, 610678
Tags
Green Green List (high evidence)
TWNK
5 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
Tags
Green Green List (high evidence)
TYMP
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041
Tags
Green Green List (high evidence)
UQCC2
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 7, 615824
Tags
Green Green List (high evidence)
UQCRB
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 3, 615158
Tags
Green Green List (high evidence)
VARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 20, 615917
Tags
Green Green List (high evidence)
WARS2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
Tags
Green Green List (high evidence)
YARS2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Tags
Amber Amber List (moderate evidence)
ATP5A1
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 22, 616045
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5B
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5C1
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5E
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5F1
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5G1
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5G2
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5G3
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5H
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5I
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5J
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5J2
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5L
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5L2
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATP5O
5 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATPAF1
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
CEP89
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COA1
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COA3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COA4
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COA5
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500
Tags
Amber Amber List (moderate evidence)
COQ5
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX11
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX16
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX17
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX18
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX19
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX4I1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX4I2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
Tags
Amber Amber List (moderate evidence)
COX5A
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pulmonary arterial hypertension, lactic acidemia, and failure to thrive
Tags
Amber Amber List (moderate evidence)
COX5B
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX6A2
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX6B2
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX6C
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX7A1
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX7C
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
COX8A
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex IV deficiency, 220110
Tags
Amber Amber List (moderate evidence)
ERAL1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Perrault syndrome 6, 617565
Tags
Amber Amber List (moderate evidence)
GATB
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial cardiomyopathy disorder
Tags
Amber Amber List (moderate evidence)
GATC
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial cardiomyopathy disorder
Tags
Amber Amber List (moderate evidence)
IDH3A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Infantile encephalopathy
  • Retinitis pigmentosa with macular pseudocoloboma
Tags
Amber Amber List (moderate evidence)
IDH3B
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 46, 612572
Tags
Amber Amber List (moderate evidence)
LYRM4
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 19, 615595
Tags
Amber Amber List (moderate evidence)
MRM2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
MRPL12
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Growth retardation and neurological deterioration
Tags
Amber Amber List (moderate evidence)
MRPS14
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
MRPS16
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 2, 610498
Tags
Amber Amber List (moderate evidence)
MRPS23
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hepatic disease
Tags
Amber Amber List (moderate evidence)
MRPS7
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 34, 617872
Tags
Amber Amber List (moderate evidence)
NDUFA12
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 23, 618244
Tags
Amber Amber List (moderate evidence)
NDUFA13
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 28, 618249
Tags
Amber Amber List (moderate evidence)
NDUFA3
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFA5
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFA7
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFA8
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFAB1
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFAF7
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFB1
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFB10
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFB2
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFB4
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFB5
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFB6
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFB7
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFB9
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 24, 618245
Tags
Amber Amber List (moderate evidence)
NDUFC1
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFC2
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFS5
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NDUFV3
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
NFS1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Infantile mitochondrial complex II/III deficiency
Tags
Amber Amber List (moderate evidence)
NSUN3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
OXA1L
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
PET117
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
POLRMT
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
PTCD3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
SDHAF2
5 reviews
2 green 1 red
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
SDHAF3
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
SDHAF4
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
SDHB
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
SDHC
4 reviews
2 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
SLC25A21
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
TARS2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 21, 615918
Tags
Amber Amber List (moderate evidence)
TFAM
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156
Tags
Amber Amber List (moderate evidence)
TIMM22
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
TIMMDC1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 31, 618251
Tags
Amber Amber List (moderate evidence)
TMEM65
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
TXN2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 29, 616811
Tags
Amber Amber List (moderate evidence)
UQCC1
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCC3
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex III deficiency, nuclear type 9, 616111
Tags
Amber Amber List (moderate evidence)
UQCR10
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCR11
3 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCRC1
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCRC2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 5, 615160
Tags
Amber Amber List (moderate evidence)
UQCRFS1
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCRH
4 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Amber Amber List (moderate evidence)
UQCRQ
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 4, 615159
Tags
Amber Amber List (moderate evidence)
YME1L1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Optic atrophy 11, 617302
Tags
Red Red List (low evidence)
ACADM
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
Tags
Red Red List (low evidence)
ACADS
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470
Tags
Red Red List (low evidence)
ACADSB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • 2-methylbutyrylglycinuria, 610006
Tags
Red Red List (low evidence)
ACADVL
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • VLCAD deficiency, 201475
Tags
Red Red List (low evidence)
ACAT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Alpha-methylacetoacetic aciduria, 203750
Tags
Red Red List (low evidence)
C19orf12
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Neurodegeneration with brain iron accumulation 4, 614298
  • ?Spastic paraplegia 43, autosomal recessive, 615043
Tags
Red Red List (low evidence)
CHKB
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Muscular dystrophy, congenital, megaconial type, 602541
Tags
Red Red List (low evidence)
CISD2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Wolfram syndrome 2, 604928
Tags
Red Red List (low evidence)
COASY
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Pontocerebellar hypoplasia, type 12, 618266
  • Neurodegeneration with brain iron accumulation 6, 615643
Tags
Red Red List (low evidence)
CPT1A
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • CPT deficiency, hepatic, type IA, 255120
Tags
Red Red List (low evidence)
CPT2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • CPT II deficiency, myopathic, stress-induced, 255110
Tags
Red Red List (low evidence)
CYCS
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Thrombocytopenia 4, 612004
Tags
Red Red List (low evidence)
D2HGDH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • D-2-hydroxyglutaric aciduria, 600721
Tags
Red Red List (low evidence)
DARS
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Tags
  • new-gene-name
Red Red List (low evidence)
DCC
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Mirror movements 1 and/or agenesis of the corpus callosum, 157600
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542
Tags
Red Red List (low evidence)
DHTKD1
4 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025
  • 2-aminoadipic 2-oxoadipic aciduria, 204750
Tags
Red Red List (low evidence)
ECSIT
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
ETFA
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Glutaric acidemia IIA ,231680
Tags
Red Red List (low evidence)
ETFB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Glutaric acidemia IIB ,231680
Tags
Red Red List (low evidence)
FXN
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Friedreich ataxia, 229300
Tags
Red Red List (low evidence)
G6PC
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Glycogen storage disease Ia, 232200
Tags
Red Red List (low evidence)
GATM
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cerebral creatine deficiency syndrome 3, 612718
Tags
Red Red List (low evidence)
GLUD1
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
Tags
Red Red List (low evidence)
HADH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 4, 609975
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
Tags
Red Red List (low evidence)
HADHA
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Trifunctional protein deficiency, 609015
  • LCHAD deficiency, 609016
Tags
Red Red List (low evidence)
HADHB
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Trifunctional protein deficiency, 609015
Tags
Red Red List (low evidence)
HMGCL
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • NHS GMS
  • Other
Phenotypes
  • HMG-CoA lyase deficiency, 246450
Tags
Red Red List (low evidence)
HMGCS2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • HMG-CoA synthase-2 deficiency, 605911
Tags
Red Red List (low evidence)
HSPA9
3 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Even-plus syndrome, 616854
  • Anemia, sideroblastic, 4, 182170
  • Also Parkinson disease association?
Tags
Red Red List (low evidence)
HTT
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Huntington disease, 143100
Tags
Red Red List (low evidence)
IER3IP1
3 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • NHS GMS
  • Other
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
Tags
Red Red List (low evidence)
L2HGDH
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • L-2-hydroxyglutaric aciduria, 236792
Tags
Red Red List (low evidence)
NNT
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736
Tags
Red Red List (low evidence)
OXCT1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050
Tags
Red Red List (low evidence)
PANK2
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • HARP syndrome, 607236
  • Neurodegeneration with brain iron accumulation 1, 234200
Tags
Red Red List (low evidence)
PDK3
3 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905
Tags
Red Red List (low evidence)
PDP2
4 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • None
Tags
Red Red List (low evidence)
PDPR
4 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • None
Tags
Red Red List (low evidence)
PITRM1
4 reviews
2 green 1 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
PNPLA4
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
PPOX
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Porphyria variegata, 176200
Tags
Red Red List (low evidence)
PYCR1
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Cutis laxa, autosomal recessive, type IIIB, 614438
  • Cutis laxa, autosomal recessive, type IIB, 612940
Tags
Red Red List (low evidence)
QARS
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760
Tags
  • new-gene-name
Red Red List (low evidence)
ROBO3
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313
Tags
Red Red List (low evidence)
SAMHD1
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Aicardi-Goutieres syndrome 5, 612952
Tags
Red Red List (low evidence)
SLC22A5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Carnitine deficiency, systemic primary, 212140
Tags
Red Red List (low evidence)
SLC25A13
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Citrullinemia, adult-onset type II, 603471
  • Citrullinemia, type II, neonatal-onset 605814
Tags
Red Red List (low evidence)
SLC25A20
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency, 212138
Tags
Red Red List (low evidence)
SLC25A22
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Epileptic encephalopathy, early infantile, 3, 609304
Tags
Red Red List (low evidence)
SLC25A40
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
SLC52A2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2, 614707
Tags
Red Red List (low evidence)
SLC52A3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1, 211530
Tags
Red Red List (low evidence)
SRRT
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
SSBP1
2 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
STAT2
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Immunodeficiency 44, 616636
Tags
Red Red List (low evidence)
SUCLG2
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • None
Tags
Red Red List (low evidence)
TANGO2
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878
Tags
Red Red List (low evidence)
TIMM44
4 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
TMEM126A
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Optic atrophy 7, 612989
Tags
Red Red List (low evidence)
TRAP1
2 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Tags
Red Red List (low evidence)
VPS13C
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Parkinson disease 23, autosomal recessive, early onset, 616840
Tags
Red Red List (low evidence)
WFS1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Deafness, autosomal dominant 6/14/38, 600965
  • Wolfram-like syndrome, autosomal dominant, 614296
  • Wolfram syndrome 1, 222300
Tags
Red Red List (low evidence)
XPNPEP3
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Nephronophthisis-like nephropathy 1, 613159
Tags

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