Mitochondrial disorders (Version 4.169)

The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Description

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

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

The green genes on panel version 4.0 are consistent with the GMS Mitochondrial specialist test group sign-off assessment of the GMS mitochondrial panels 22 Mar 2023.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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

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

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

Panel Activity

20 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Katherine Smith (Genomics England)

Group: Other
Workplace: Other
Carl Fratter (Oxford University Hospitals NHS Trust)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Shamima Rahman (UCL Institute of Child Health)

Group: GeCIP domain
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Rachel Jones (GSTT)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

Group: Other
Workplace: Other diagnostic lab
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Hannah Knight (NIHR BioResource - University of Cambridge)

Group: Other
Workplace: Research lab

490 Entities

488 reviewed, 277 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 490 Entitiess
Green Green List (high evidence)	AARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 8, 614096 infantile mitochondrial cardiomyopathy Tags
Green Green List (high evidence)	ABAT	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes mtDNA depletion syndrome 613163 Tags
Green Green List (high evidence)	ABCB7	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Disorders of iron homeostasis Anemia, sideroblastic, with ataxia congenital cerebellar hypoplasia/atrophy (PMID: 26242992). Tags
Green Green List (high evidence)	ACAD9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency ACAD9 deficiency, 611126 Mitochondrial complex I deficiency due to ACAD9 deficiency Tags
Green Green List (high evidence)	ACO2	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Infantile cerebellar-retinal degeneration, 614559 Tags
Green Green List (high evidence)	AFG3L2	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags
Green Green List (high evidence)	AGK	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Sengers syndrome, 212350 Mitochondrial DNA depletion syndrome 10 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Disorders of mitochondrial lipid metabolism Cataract 38, autosomal recessive, 614691 Tags
Green Green List (high evidence)	AIFM1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of mitochondrial apoptosis Combined oxidative phosphorylation deficiency 6, 300816 Cowchock syndrome, 310490 Tags
Green Green List (high evidence)	ANO10	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728 autosomal recessive spinocerebellar ataxia 10, MONDO:0013392 Tags Q3_23_expert_review
Green Green List (high evidence)	APOPT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Isolated complex IV deficiency Tags new-gene-name
Green Green List (high evidence)	APTX	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Disorders of ubiquinone metabolism and biosynthesis Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 Ataxia with oculomotor apraxia 1 Tags
Green Green List (high evidence)	ATAD3A	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Harel-Yoon syndrome, OMIM:617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810 Tags
Green Green List (high evidence)	ATP5A1	7 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228 Combined oxidative phosphorylation deficiency 22, OMIM: 616045 Tags new-gene-name
Green Green List (high evidence)	ATP5D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 Tags new-gene-name
Green Green List (high evidence)	ATP5G3	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 Tags new-gene-name
Green Green List (high evidence)	ATP5O	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 Tags new-gene-name
Green Green List (high evidence)	ATPAF2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex V deficiency Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type Mitochondrial Diseases Tags watchlist
Green Green List (high evidence)	BCS1L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex III deficiency Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Bjornstad syndrome, 262000 GRACILE syndrome, 603358 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex III Deficiency Tags
Green Green List (high evidence)	BOLA3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of iron homeostasis Multiple mitochondrial dysfunctions syndrome 2, 614299 Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366) Multiple Mitochondrial Dysfunctions Syndrome Tags
Green Green List (high evidence)	BTD	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Biotinidase deficiency, OMIM:253260 biotinidase deficiency, MONDO:0009665 Tags Q3_23_expert_review
Green Green List (high evidence)	C12orf65	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 7, OMIM:613559 Spastic paraplegia 55, autosomal recessive, OMIM:615035 Tags new-gene-name
Green Green List (high evidence)	C19orf70	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 37, 618329 Tags new-gene-name
Green Green List (high evidence)	C1QBP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 33, MIM#617713 Tags
Green Green List (high evidence)	C2orf69	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked
Green Green List (high evidence)	CA5A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 Tags
Green Green List (high evidence)	CARS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 27 616672 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) No OMIM phenotype Tags
Green Green List (high evidence)	CHCHD10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Spinal muscular atrophy, Jokela type Tags
Green Green List (high evidence)	CLPB	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 Tags
Green Green List (high evidence)	CLPP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Perrault syndrome 3, 614129 Tags
Green Green List (high evidence)	COA6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 Tags treatable
Green Green List (high evidence)	COA7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 Tags
Green Green List (high evidence)	COQ2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 Tags
Green Green List (high evidence)	COQ4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 7, OMIM:616276 Tags
Green Green List (high evidence)	COQ6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Steroid-resistant nephrotic syndrome Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 6, 614650 Tags
Green Green List (high evidence)	COQ7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green NHS GMS Phenotypes ?Coenzyme Q10 deficiency, primary, 8 616733 complex multisystem presentation Tags
Green Green List (high evidence)	COQ8A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 4, 612016 Coenzyme Q10 deficiency Tags
Green Green List (high evidence)	COQ8B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 9 Tags
Green Green List (high evidence)	COQ9	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 5, 614654 Coenzyme Q10 deficiency Tags watchlist
Green Green List (high evidence)	COX10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Tags
Green Green List (high evidence)	COX15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
Green Green List (high evidence)	COX20	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex IV deficiency Mitochondrial complex IV deficiency, 220110 Tags
Green Green List (high evidence)	COX6A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 Tags
Green Green List (high evidence)	COX6A2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 Tags
Green Green List (high evidence)	COX6B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 Tags
Green Green List (high evidence)	COX7B	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex IV deficiency Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887 MICROPHTHALMIA WITH LINEAR SKIN LESIONS Linear skin defects with multiple congenital anomalies Tags
Green Green List (high evidence)	CRLS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 57, OMIM:620167 Tags
Green Green List (high evidence)	CYC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex III deficiency Mitochondrial complex III deficiency, nuclear type 6, 615453 Tags
Green Green List (high evidence)	DARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green Green List (high evidence)	DGUOK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Mitochondrial DNA Depletion Syndrome Tags
Green Green List (high evidence)	DLAT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase E2 deficiency, 245348 Tags
Green Green List (high evidence)	DLD	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900 Leigh syndrome Tags
Green Green List (high evidence)	DMPK_CTG STR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green NHS GMS Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Green Green List (high evidence)	DNA2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of mitochondrial DNA maintenance and integrity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 615156 Tags
Green Green List (high evidence)	DNAJC19	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of the mitochondrial import system 3-methylglutaconic aciduria, type V, 610198 Tags
Green Green List (high evidence)	DNM1L	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 Tags
Green Green List (high evidence)	DNM2	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Centronuclear myopathy 1, 160150 Charcot-Marie-Tooth disease, axonal type 2M, 606482 Charcot-Marie-Tooth disease, dominant intermediate B, 606482 Tags
Green Green List (high evidence)	EARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 12, 614924 Tags
Green Green List (high evidence)	ECHS1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 Tags
Green Green List (high evidence)	ELAC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 17, 615440 infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency Tags
Green Green List (high evidence)	ETFDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Disorders of ubiquinone metabolism and biosynthesis GLUTARIC ACIDURIA TYPE 2C Glutaric acidemia IIC Tags
Green Green List (high evidence)	ETHE1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex IV deficiency Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Ethylmalonic encephalopathy, 602473 Ethylmalonic encephalopathy Tags
Green Green List (high evidence)	FARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 14, 614946 Tags
Green Green List (high evidence)	FASTKD2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 Tags
Green Green List (high evidence)	FBXL4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471 mitochondrial DNA depletion syndrome 13 MONDO:0014198 Tags
Green Green List (high evidence)	FDX2	6 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 Tags
Green Green List (high evidence)	FDXR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Auditory neuropathy and optic atrophy 617717 Tags
Green Green List (high evidence)	FH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Fumarase deficiency, OMIM:606812 Tags
Green Green List (high evidence)	FLAD1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Multiple acyl-CoA dehydrogenase deficiencies (MADDs) Tags
Green Green List (high evidence)	FOXRED1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	GARS	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Charcot-Marie-Tooth disease, type 2D Neuropathy, distal hereditary motor, type VA Tags new-gene-name treatable
Green Green List (high evidence)	GDAP1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400 Tags
Green Green List (high evidence)	GFER	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Disorders of the mitochondrial import system Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 Tags
Green Green List (high evidence)	GFM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 1, 609060 Tags
Green Green List (high evidence)	GFM2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 39, OMIM:618397 Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits Tags
Green Green List (high evidence)	GLRX5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of iron homeostasis Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 Tags
Green Green List (high evidence)	GTPBP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy Combined oxidative phosphorylation deficiency 23 Tags
Green Green List (high evidence)	HARS2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Perrault syndrome 2, 614926 Tags
Green Green List (high evidence)	HCCS	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 7, 309801 Linear skin defects with multiple congenital anomalies 1 Tags
Green Green List (high evidence)	HIBCH	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 HIBCH deficiency Tags
Green Green List (high evidence)	HLCS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holocarboxylase synthetase deficiency, 253270 Tags
Green Green List (high evidence)	HSD17B10	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HSD10 mitochondrial disease, OMIM:300438 Tags
Green Green List (high evidence)	HSPD1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR) Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) Tags
Green Green List (high evidence)	HTRA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria, type VIII 617248 Tags
Green Green List (high evidence)	IARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 616007 Tags
Green Green List (high evidence)	IBA57	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 Tags
Green Green List (high evidence)	IDH3A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 90, OMIM:619007 retinitis pigmentosa 90, MONDO:0033563 Tags
Green Green List (high evidence)	2p21 region (includes PREPL and SLC3A1) Loss ISCA-37440-Loss Region	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes mild/moderate mental retardation facial dysmorphism Hypotonia-cystinuria syndrome (HCS) 2p21 deletion syndrome rapid weight gain in late childhood failure to thrive growth hormone deficiency 606407 lactic acidemia respiratory chain complex IV deficiency hyperphagia minor facial dysmorphism severe somatic and developmental delay nephrolithiasis cystinuria neonatal seizures hypotonia Tags
Green Green List (high evidence)	ISCA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 Tags
Green Green List (high evidence)	ISCA2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes infantile neurodegenerative mitochondrial disorder Tags founder-effect
Green Green List (high evidence)	ISCU	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of iron homeostasis Myopathy with lactic acidosis, hereditary, 255125 Tags founder-effect non-coding-known-pathogenic
Green Green List (high evidence)	KARS	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Deafness, autosomal recessive 89, 613916 Tags new-gene-name
Green Green List (high evidence)	KIAA0391	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Hearing loss, intellectual disability Tags new-gene-name
Green Green List (high evidence)	LARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Perrault syndrome 4, OMIM:615300 Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) Multiple respiratory chain complex deficiencies (disorders of protein synthesis Tags
Green Green List (high evidence)	LETM1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags
Green Green List (high evidence)	LIAS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 Tags
Green Green List (high evidence)	LIG3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes gut dysmotility spasticity ataxia repetitive behaviours neurogenic bladder macular degeneration leukoencephalopathy cerebellar atrophy mitochondrial DNA depletion Tags
Green Green List (high evidence)	LIPT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Lipoyltransferase 1 deficiency Tags
Green Green List (high evidence)	LIPT2	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Other Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 Tags
Green Green List (high evidence)	LONP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) Tags
Green Green List (high evidence)	LRPPRC	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex IV deficiency Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Leigh syndrome, French-Canadian type, 220111 Mitochondrial Diseases Tags
Green Green List (high evidence)	LYRM4	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 19, OMIM:615595 Tags
Green Green List (high evidence)	LYRM7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Isolated complex III deficiency Mitochondrial complex III deficiency, nuclear type 8 615838 leukoencephalopathy and complex III deficiency severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle Tags
Green Green List (high evidence)	MARS2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Spastic Ataxia 13, autosomal recessive, 611390 ?Combined oxidative phosphorylation deficiency 25 Tags
Green Green List (high evidence)	MDH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 51 617339 Tags
Green Green List (high evidence)	MECR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 Tags
Green Green List (high evidence)	MFF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 Tags
Green Green List (high evidence)	MFN2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087 Hereditary motor and sensory neuropathy VIA, OMIM:601152 Tags
Green Green List (high evidence)	MGME1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 11, 615084 Tags
Green Green List (high evidence)	MICU1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy with extrapyramidal signs 615673 Tags founder-effect
Green Green List (high evidence)	MIPEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 31, 617228 Tags
Green Green List (high evidence)	MPC1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial pyruvate carrier deficiency, OMIM:614741 Tags
Green Green List (high evidence)	MPV17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 Mitochondrial DNA Depletion Syndrome Tags
Green Green List (high evidence)	MRPL3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 9, 614582 Tags
Green Green List (high evidence)	MRPL44	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) ?Combined oxidative phosphorylation deficiency 16, 615395 Tags
Green Green List (high evidence)	MRPS2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Combined oxidative phosphorylation deficiency 36 617950 Tags
Green Green List (high evidence)	MRPS22	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 5, 611719 Tags
Green Green List (high evidence)	MRPS34	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 32 617664 Tags
Green Green List (high evidence)	MSTO1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Myopathy, mitochondrial, and ataxia OMIM:617675 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 Tags Q1_24_MOI
Green Green List (high evidence)	MT-ATP6	3 reviews 2 green	MITOCHONDRIAL	Sources Emory Genetics Laboratory Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-ATP8	4 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes CARDIOMYOPATHY, INFANTILE HYPERTROPHIC CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO Tags gene-checked
Green Green List (high evidence)	MT-CO1	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes LEBER OPTIC ATROPHY SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC CYTOCHROME c OXIDASE DEFICIENCY MYOGLOBINURIA, RECURRENT CYTOCHROME c OXIDASE I DEFICIENCY Tags gene-checked
Green Green List (high evidence)	MT-CO2	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes CYTOCHROME c OXIDASE DEFICIENCY Tags gene-checked
Green Green List (high evidence)	MT-CO3	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-CYB	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes LEBER OPTIC ATROPHY ENCEPHALOMYOPATHY, MITOCHONDRIAL MULTISYSTEM DISORDER EXERCISE INTOLERANCE CARDIOMYOPATHY, INFANTILE HISTIOCYTOID EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA PARKINSONISM/MELAS OVERLAP SYNDROME Tags gene-checked
Green Green List (high evidence)	MT-ND1	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes LEBER OPTIC ATROPHY SUDDEN INFANT DEATH SYNDROME MITOCHONDRIAL COMPLEX I DEFICIENCY DYSTONIA, ADULT-ONSET MELAS SYNDROME DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL Tags gene-checked
Green Green List (high evidence)	MT-ND2	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes LEBER OPTIC ATROPHY MITOCHONDRIAL COMPLEX I DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags gene-checked
Green Green List (high evidence)	MT-ND3	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Tags gene-checked
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-checked gene-therapy-trial
Green Green List (high evidence)	MT-ND4L	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes LEBER OPTIC ATROPHY Tags gene-checked
Green Green List (high evidence)	MT-ND5	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes LEBER OPTIC ATROPHY LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY MELAS SYNDROME LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY MERRF SYNDROME Tags gene-checked
Green Green List (high evidence)	MT-ND6	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes LEBER OPTIC ATROPHY LEBER OPTIC ATROPHY AND DYSTONIA LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY MELAS SYNDROME STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA Tags gene-checked
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 gene-checked 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 gene-checked locus-type-rna-transfer
Green Green List (high evidence)	MT-TC	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes MELAS SYNDROME DYSTONIA, MITOCHONDRIAL Tags gene-checked
Green Green List (high evidence)	MT-TD	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED Tags gene-checked
Green Green List (high evidence)	MT-TE	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS DIABETES AND DEAFNESS, MATERNALLY INHERITED MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT Tags gene-checked
Green Green List (high evidence)	MT-TF	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TG	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TH	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TI	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TK	3 reviews 2 green	MITOCHONDRIAL	Sources Emory Genetics Laboratory Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TL1	3 reviews 2 green	MITOCHONDRIAL	Sources Emory Genetics Laboratory Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TL2	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TM	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TN	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TP	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TQ	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TR	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TS1	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TS2	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TV	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TW	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MT-TY	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Green UKGTN Tags gene-checked
Green Green List (high evidence)	MTFMT	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947 combined oxidative phosphorylation defect type 15 MONDO:0013987 Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248 mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 Tags
Green Green List (high evidence)	MTO1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 10, 614702 infantile hypertrophic cardiomyopathy and lactic acidosis. Tags
Green Green List (high evidence)	MTPAP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes ?Spastic ataxia 4, autosomal recessive 613672 Tags
Green Green List (high evidence)	NADK2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 Tags treatable
Green Green List (high evidence)	NARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 24 Tags
Green Green List (high evidence)	NAXD	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321 Tags
Green Green List (high evidence)	NAXE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 Tags
Green Green List (high evidence)	NDUFA1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Tags
Green Green List (high evidence)	NDUFA10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Leigh syndrome, 256000 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFA11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFA12	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Green Green List (high evidence)	NDUFA13	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249 Tags
Green Green List (high evidence)	NDUFA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFA4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex IV deficiency No OMIM phenotype Tags
Green Green List (high evidence)	NDUFA6	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 Tags
Green Green List (high evidence)	NDUFA8	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272 Tags
Green Green List (high evidence)	NDUFA9	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 Tags
Green Green List (high evidence)	NDUFAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFAF2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Leigh syndrome, 256000 Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFAF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFAF4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFAF5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Mitochondrial complex 1 deficiency, 252010 Mitochondrial Diseases Tags
Green Green List (high evidence)	NDUFAF6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Leigh syndrome due to mitochondrial complex I deficiency, 256000 Tags
Green Green List (high evidence)	NDUFAF8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 Tags gene-checked
Green Green List (high evidence)	NDUFB10	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 Tags
Green Green List (high evidence)	NDUFB11	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Linear skin defects with multiple congenital anomalies 3 histiocytoid cardiomyopathy microphthalmia with linear skin defects syndrome Tags
Green Green List (high evidence)	NDUFB3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 Tags
Green Green List (high evidence)	NDUFB8	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 Tags
Green Green List (high evidence)	NDUFC2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170 Tags
Green Green List (high evidence)	NDUFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Tags
Green Green List (high evidence)	NDUFS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Leigh syndrome, 256000 Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Complex I, mitochondrial respiratory chain, deficiency of, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Leigh syndrome, 256000 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	NDUFV2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 Tags
Green Green List (high evidence)	NFS1	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 52, OMIM:619386 Tags
Green Green List (high evidence)	NFU1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 Tags
Green Green List (high evidence)	NSUN3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 48, OMIM:619012 Tags
Green Green List (high evidence)	NUBPL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Mitochondrial complex I deficiency, 252010 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex I Deficiency Tags
Green Green List (high evidence)	OPA1	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896 Behr syndrome, OMIM:210000 Tags
Green Green List (high evidence)	OPA3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 Tags
Green Green List (high evidence)	PARS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Alpers syndrome Epileptic encephalopathy, early infantile, 75, 618437 Tags
Green Green List (high evidence)	PC	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Pyruvate carboxylase deficiency, OMIM:266150 Tags
Green Green List (high evidence)	PDHA1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, 312170 Leigh syndrome, X-linked, 308930 Tags
Green Green List (high evidence)	PDHB	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 Tags
Green Green List (high evidence)	PDHX	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349 Tags
Green Green List (high evidence)	PDP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 Tags
Green Green List (high evidence)	PDSS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 2, 614651 Tags
Green Green List (high evidence)	PDSS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of ubiquinone metabolism and biosynthesis Coenzyme Q10 deficiency, primary, 3, 614652 Tags
Green Green List (high evidence)	PET100	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex IV deficiency Mitochondrial complex IV deficiency, 220110 Leigh syndrome Tags
Green Green List (high evidence)	PMPCA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes non-progressive cerebellar ataxia slowly progressive cerebellar ataxia Tags
Green Green List (high evidence)	PMPCB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954 multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 Tags
Green Green List (high evidence)	PNPLA8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 Tags
Green Green List (high evidence)	PNPT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932 Deafness, autosomal recessive 70, OMIM:614934 Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Green Green List (high evidence)	POLG	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement exclusion criteria Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia, autosomal recessive, 258450 Progressive external ophthalmoplegia, autosomal dominant, 157640 Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 Mitochondrial DNA Depletion Syndrome Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Tags
Green Green List (high evidence)	POLG2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528 Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 Tags
Green Green List (high evidence)	POLRMT	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 55, OMIM:619743 Tags
Green Green List (high evidence)	PPA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PUS1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Mitochondrial myopathy and sideroblastic anemia 1, 600462 Tags
Green Green List (high evidence)	QRSL1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 40, OMIM:618835 Tags
Green Green List (high evidence)	RARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Pontocerebellar hypoplasia, type 6, 611523 Tags
Green Green List (high evidence)	RMND1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 11, 614922 Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect Tags
Green Green List (high evidence)	RNASEH1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Tags
Green Green List (high evidence)	RRM2B	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Mitochondrial DNA Depletion Syndrome (recessive) Tags
Green Green List (high evidence)	RTN4IP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 Tags
Green Green List (high evidence)	SACS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) Spastic ataxia, Charlevoix-Saguenay type Tags
Green Green List (high evidence)	SARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 Tags
Green Green List (high evidence)	SCO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
Green Green List (high evidence)	SCO2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex IV deficiency Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Myopia 6, 608908 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency Tags
Green Green List (high evidence)	SDHA	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259 Cardiomyopathy, dilated, 1GG, OMIM:613642 Tags
Green Green List (high evidence)	SDHAF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex II deficiency, 252011 Tags
Green Green List (high evidence)	SDHB	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 Tags
Green Green List (high evidence)	SDHD	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green NHS GMS Phenotypes Mitochondrial respiratory chain complex II deficiency 252011 Tags
Green Green List (high evidence)	SERAC1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Tags
Green Green List (high evidence)	SFXN4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 18, 615578 Tags
Green Green List (high evidence)	SLC19A2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 Tags
Green Green List (high evidence)	SLC19A3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 Tags
Green Green List (high evidence)	SLC25A1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of mitochondrial protein transport Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 Tags
Green Green List (high evidence)	SLC25A12	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 39 612949 Tags
Green Green List (high evidence)	SLC25A19	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microcephaly, Amish type, 607196 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 Tags
Green Green List (high evidence)	SLC25A26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness Combined oxidative phosphorylation deficiency 28 intra-mitochondrial methylation deficiency. Tags
Green Green List (high evidence)	SLC25A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial phosphate carrier deficiency, 610773 Tags
Green Green List (high evidence)	SLC25A32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Exercise intolerance, riboflavin-responsive 616839 Tags gene-checked treatable
Green Green List (high evidence)	SLC25A38	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes nonsyndromic autosomal recessive congenital sideroblastic anemia congenital sideroblastic anemias severe, non-syndromic, microcytic/hypochromic sideroblastic anemia Tags
Green Green List (high evidence)	SLC25A4	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) 617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) 615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 Tags
Green Green List (high evidence)	SLC25A42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes mitochondrial myopathy Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416 Tags founder-effect
Green Green List (high evidence)	SLC25A46	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes optic atrophy spectrum disorder Tags
Green Green List (high evidence)	SPG7	5 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags
Green Green List (high evidence)	SSBP1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 Tags
Green Green List (high evidence)	SUCLA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Tags
Green Green List (high evidence)	SUCLG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400 Mitochondrial DNA Depletion Syndrome Tags
Green Green List (high evidence)	SURF1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex IV deficiency Leigh syndrome, due to COX deficiency, 256000 Mitochondrial Diseases Leigh Syndrome Complex IV deficiency Tags
Green Green List (high evidence)	TACO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex IV deficiency Multiple respiratory chain complex deficiencies (disorders of protein synthesis) ?Mitochondrial complex IV deficiency, 220110 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex IV Deficiency Tags
Green Green List (high evidence)	TARS2	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918, MONDO:0014398 Tags
Green Green List (high evidence)	TAZ	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of mitochondrial lipid metabolism Barth syndrome, 302060 Tags new-gene-name
Green Green List (high evidence)	TFAM	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156 Tags
Green Green List (high evidence)	TIMM50	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 3-methylglutaconic aciduria, type IX 617698 Tags
Green Green List (high evidence)	TIMM8A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Disorders of the mitochondrial import system Deafness, X-linked 1, progressive Mohr-Tranebjaerg syndrome, 304700 Jensen syndrome, 311150 Tags
Green Green List (high evidence)	TIMMDC1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251 Tags
Green Green List (high evidence)	TK2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Mitochondrial DNA Depletion Syndrome Tags
Green Green List (high evidence)	TMEM126B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency Tags
Green Green List (high evidence)	TMEM70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex V deficiency Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type Mitochondrial Diseases Tags
Green Green List (high evidence)	TOP3A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 Tags
Green Green List (high evidence)	TPK1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 Tags
Green Green List (high evidence)	TRIT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 35, OMIM:617873 combined oxidative phosphorylation deficiency 35, MONDO:0054742 Tags gene-checked
Green Green List (high evidence)	TRMT10C	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 30, 616974 Tags
Green Green List (high evidence)	TRMT5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 26 616539 Tags
Green Green List (high evidence)	TRMU	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) {Deafness, mitochondrial, modifier of}, 580000 Liver failure, transient infantile, 613070 Tags
Green Green List (high evidence)	TRNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD) retinitis pigmentosa with erythrocytic microcytosis Tags
Green Green List (high evidence)	TSFM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 3, 610505 Tags
Green Green List (high evidence)	TTC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex III deficiency Mitochondrial complex III deficiency, nuclear type 2, 615157 Mitochondrial Diseases Mitochondrial Respiratory Chain Complex III Deficiency Tags
Green Green List (high evidence)	TUFM	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 4 610678 Tags
Green Green List (high evidence)	TWNK	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 Perrault syndrome 5, OMIM:616138 Tags
Green Green List (high evidence)	TYMP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Disorders of mitochondrial DNA maintenance and integrity Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 Mitochondrial Neurogastrointestinal Encephalopathy Disease Tags
Green Green List (high evidence)	UQCC2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 Tags
Green Green List (high evidence)	UQCRB	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 Tags
Green Green List (high evidence)	UQCRC2	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160 Tags
Green Green List (high evidence)	UQCRFS1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 Tags
Green Green List (high evidence)	VARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 20, 615917 Tags
Green Green List (high evidence)	WARS2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 Tags
Green Green List (high evidence)	YARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 Tags
Amber Amber List (moderate evidence)	ATP5B	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 Tags new-gene-name
Amber Amber List (moderate evidence)	ATP5E	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053 mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 Tags new-gene-name Q4_23_promote_green
Amber Amber List (moderate evidence)	COASY	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Neurodegeneration with brain iron accumulation 6, OMIM:615643 neurodegeneration with brain iron accumulation 6, MONDO:0014290 Pontocerebellar hypoplasia, type 12, OMIM:618266 pontocerebellar hypoplasia, type 12, MONDO:0032643 Tags
Amber Amber List (moderate evidence)	COX11	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	COX14	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex IV deficiency Mitochondrial complex IV deficiency, 220110 Tags
Amber Amber List (moderate evidence)	COX16	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355 Hypertrophic cardiomyopathy Encephalopathy Severe fatal lactic acidosis Tags gene-checked watchlist
Amber Amber List (moderate evidence)	COX5A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CRAT	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Neurodegeneration with brain iron accumulation 8, OMIM:617917 Leigh syndrome, MONDO:0009723 Tags
Amber Amber List (moderate evidence)	CYCS	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Thrombocytopenia 4, OMIM:612004 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	DCC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 Tags structural-variant watchlist
Amber Amber List (moderate evidence)	ETFA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Glutaric acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Amber Amber List (moderate evidence)	ETFB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Amber Amber List (moderate evidence)	HADHB	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial trifunctional protein deficiency 2, OMIM:620300 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	HPDL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026 Spastic paraplegia 83, autosomal recessive OMIM:619027 Tags for-review gene-checked to_be_confirmed_NHSE
Amber Amber List (moderate evidence)	IDH3B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 46, 612572 Tags
Amber Amber List (moderate evidence)	MRM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Mitochondrial DNA depletion syndrome 17, OMIM:618567 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	MRPS14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 Tags
Amber Amber List (moderate evidence)	MRPS16	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Combined oxidative phosphorylation deficiency 2, 610498 Tags
Amber Amber List (moderate evidence)	MT-RNR2	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Amber UKGTN Tags locus-type-rna-ribosomal
Amber Amber List (moderate evidence)	MT-TT	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Amber UKGTN Tags
Amber Amber List (moderate evidence)	NDUFB7	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 Tags watchlist
Amber Amber List (moderate evidence)	NDUFB9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex I deficiency ?Mitochondrial complex I deficiency, 252010 Tags
Amber Amber List (moderate evidence)	OGDH	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740 oxoglutaricaciduria, MONDO:0008759 Tags
Amber Amber List (moderate evidence)	OXA1L	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	OXCT1	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PANK2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes HARP syndrome, OMIM:607236 Neurodegeneration with brain iron accumulation 1, OMIM:234200 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PCK2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes PEPCK deficiency, mitochondrial, OMIM:261650 Abnormal gait peripheral neuropathy Tags
Amber Amber List (moderate evidence)	PITRM1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes mental retardation, spinocerebellar ataxia, cognitive decline and psychosis Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PLA2G6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Infantile neuroaxonal dystrophy 1, OMIM:256600 neurodegeneration with brain iron accumulation 2A, MONDO:0024457 Neurodegeneration with brain iron accumulation 2B, OMIM:610217 neurodegeneration with brain iron accumulation 2B, MONDO:0012444 Parkinson disease 14, autosomal recessive, OMIM:612953 autosomal recessive Parkinson disease 14 MONDO:0013060 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PPOX	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Porphyria variegata, 176200 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PTCD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Combined oxidative phosphorylation deficiency 51, OMIM:619057 combined oxidative phosphorylation deficiency 51, MONDO:0033631 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	QARS	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760 Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags new-gene-name Q3_23_promote_green
Amber Amber List (moderate evidence)	SLC22A5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	SLC25A20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Carnitine-acylcarnitine translocase deficiency, OMIM:212138 carnitine-acylcarnitine translocase deficiency, MONDO:0008918 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	SLC25A21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	SLC25A24	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Fontaine progeroid syndrome, OMIM 612289 Fontaine progeroid syndrome, MONDO:0012853 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	SLC25A36	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hyperinsulinemic hypoglycemia, familial, 8, OMIM:620211 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	SLC52A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Brown-Vialetto-Van Laere syndrome 2, OMIM:614707 brown-Vialetto-van Laere syndrome 2, MONDO:0013867 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SLC52A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530 Brown-Vialetto-van Laere syndrome 1, MONDO:0024537 Tags Q4_23_MOI Q4_23_promote_green
Amber Amber List (moderate evidence)	SPATA5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 Tags new-gene-name Q1_24_promote_green
Amber Amber List (moderate evidence)	TAMM41	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 56, OMIM:620139 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	TEFM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 58, OMIM:620451 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	TIMM22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	TMEM65	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	TOMM70	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe anaemia, lactic acidosis developmental delay white matter abnormalities Tags
Amber Amber List (moderate evidence)	UQCC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Isolated complex III deficiency ?Mitochondrial complex III deficiency, nuclear type, 616111 Tags watchlist
Amber Amber List (moderate evidence)	UQCRC1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Parkinsonism with polyneuropathy, OMIM:619279 Tags
Amber Amber List (moderate evidence)	UQCRQ	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 Tags
Amber Amber List (moderate evidence)	XPNPEP3	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Amber Amber List (moderate evidence)	YME1L1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Optic atrophy 11, 617302 Tags
Red Red List (low evidence)	ABCB6	1 review 1 red	Not set	Sources Expert list Phenotypes Dyschromatosis universalis hereditaria 3 615402 Microphthalmia, isolated, with coloboma 7 614497 Pseudohyperkalemia, familial, 2, due to red cell leak 609153 Tags
Red Red List (low evidence)	ACADM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 Tags
Red Red List (low evidence)	ACADS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 Tags
Red Red List (low evidence)	ACADSB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes 2-methylbutyrylglycinuria, 610006 Tags
Red Red List (low evidence)	ACADVL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes VLCAD deficiency, 201475 Tags
Red Red List (low evidence)	ACAT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Alpha-methylacetoacetic aciduria, 203750 Tags
Red Red List (low evidence)	ACAT2	2 reviews	Unknown	Sources Expert Review Red Literature Phenotypes ?ACAT2 deficiency, OMIM:614055 Increased serum lactate and pyruvate High levels of ketones Low levels of cytosolic acetoacetyl-CoA thiolase Hypotonia Severe developmental delay Tags
Red Red List (low evidence)	AK2	1 review 1 red	Not set	Sources Expert list Phenotypes Reticular dysgenesis 267500 Tags
Red Red List (low evidence)	ALAS2	1 review 1 red	Not set	Sources Expert list Phenotypes Anemia, sideroblastic, 1, OMIM:300751 Protoporphyria, erythropoietic, X-linked, OMIM:300752 Tags
Red Red List (low evidence)	ALDH18A1	1 review 1 red	Not set	Sources Expert list Phenotypes Cutis laxa, autosomal dominant 3 616603 Cutis laxa, autosomal recessive, type IIIA 219150 Spastic paraplegia 9A, autosomal dominant 601162 Spastic paraplegia 9B, autosomal recessive 616586 Tags
Red Red List (low evidence)	ALDH1B1	2 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Succinic semialdehyde dehydrogenase deficiency Tags
Red Red List (low evidence)	APOO	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Phenotypes Developmental delay Lactic acidosis Muscle weakness Hypotonia Repetitive infections Cognitive impairment Autistic behaviour Tags Skewed X-inactivation
Red Red List (low evidence)	ATAD3B	2 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Influence on AIDS progression Tags
Red Red List (low evidence)	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)	ATP5F1	4 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype 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)	ATP5H	4 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS 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)	ATP5J2	4 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5L	4 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5L2	4 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATPAF1	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	BDH1	1 review 1 red	Not set	Sources Expert list Tags
Red Red List (low evidence)	BOLA1	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	BOLA2	1 review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	C19orf12	6 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Neurodegeneration with brain iron accumulation 4, 614298 Mitochondrial Membrane Protein-Associated Neurodegeneration Tags
Red Red List (low evidence)	CEP89	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes isolated complex IV deficiency, intellectual disability and multisystemic problems Tags
Red Red List (low evidence)	CHKB	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy, congenital, megaconial type, 602541 Tags
Red Red List (low evidence)	CISD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Wolfram syndrome 2, 604928 Tags
Red Red List (low evidence)	CLPX	1 review 1 red	Not set	Sources Expert list Phenotypes ?Protoporphyria, erythropoietic, 2 618015 Tags
Red Red List (low evidence)	COA1	2 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COA3	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Literature Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	COA4	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COA5	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert list Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 Tags
Red Red List (low evidence)	COQ5	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX17	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX18	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX19	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX4I1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Mitochondrial Diseases Tags
Red Red List (low evidence)	COX4I2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 Mitochondrial Diseases Tags
Red Red List (low evidence)	COX5B	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX6B2	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX6C	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX7A1	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX7A2	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX7B2	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 Tags
Red Red List (low evidence)	COX7C	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX8A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Mitochondrial complex IV deficiency 220110 Tags
Red Red List (low evidence)	CPT1A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes CPT deficiency, hepatic, type IA, 255120 Tags
Red Red List (low evidence)	CPT2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes CPT II deficiency, infantile, OMIM:600649 CPT II deficiency, lethal neonatal, OMIM:608836 CPT II deficiency, myopathic, stress-induced, OMIM:255110 Tags
Red Red List (low evidence)	CTBP1	1 review 1 red	Not set	Sources Expert list Phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915 Tags
Red Red List (low evidence)	CYP24A1	1 review 1 red	Not set	Sources Expert list Phenotypes Hypercalcemia, infantile, 1 143880 Tags
Red Red List (low evidence)	D2HGDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes D-2-hydroxyglutaric aciduria, 600721 Tags
Red Red List (low evidence)	DARS	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity Tags new-gene-name
Red Red List (low evidence)	DHTKD1	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes 2-aminoadipic and 2-oxoadipic aciduria, 204750 Tags
Red Red List (low evidence)	DIABLO	1 review 1 red	Not set	Sources Expert list Phenotypes Deafness, autosomal dominant 64 614152 Tags
Red Red List (low evidence)	DIAPH1	1 review 1 red	Not set	Sources Expert list Phenotypes Deafness, autosomal dominant 1 124900 Seizures, cortical blindness, microcephaly syndrome 616632 Tags
Red Red List (low evidence)	DLST	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype?Familial Alzheimer disease Tags
Red Red List (low evidence)	DTD1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DYM	2 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 Tags
Red Red List (low evidence)	ECSIT	2 reviews	Not set	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Isolated complex I deficiency No OMIM phenotype Tags
Red Red List (low evidence)	ERAL1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Perrault syndrome 6, 617565 Tags
Red Red List (low evidence)	ERCC6L2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FA2H	1 review 1 red	Not set	Sources Expert list Phenotypes Spastic paraplegia 35, autosomal recessive 612319 Tags
Red Red List (low evidence)	FBP2	1 review	Unknown	Sources Expert Review Phenotypes isolated lactic acidosis Tags
Red Red List (low evidence)	FGF12	1 review 1 red	Not set	Sources Expert list Phenotypes Epileptic encephalopathy, early infantile, 47 617166 Tags
Red Red List (low evidence)	FXN	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags nucleotide-repeat-expansion
Red Red List (low evidence)	FXN_GAA STR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR
Red Red List (low evidence)	G6PC	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Glycogen storage disease Ia, OMIM:232200 Tags new-gene-name
Red Red List (low evidence)	GATB	5 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 Tags
Red Red List (low evidence)	GATC	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 42, OMIM:618839 Tags
Red Red List (low evidence)	GATM	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Cerebral creatine deficiency syndrome 3, OMIM:612718 Tags
Red Red List (low evidence)	GLUD1	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 Tags
Red Red List (low evidence)	GUF1	1 review 1 red	Not set	Sources Expert list Phenotypes ?Epileptic encephalopathy, early infantile, 40 617065 Tags
Red Red List (low evidence)	HADH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 Hyperinsulinemic hypoglycemia, familial, 4, 609975 Tags
Red Red List (low evidence)	HADHA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes LCHAD deficiency, 609016 Trifunctional protein deficiency, 609015 Tags
Red Red List (low evidence)	HMGCL	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes HMG-CoA lyase deficiency, 246450 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCLD Tags
Red Red List (low evidence)	HMGCS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes HMG-CoA synthase-2 deficiency, 605911 Tags
Red Red List (low evidence)	HSPA9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia Epiphyseal, Vertebral, Ear, Nose, plus associated findings Tags
Red Red List (low evidence)	HSPE1	1 review 1 red	Not set	Sources Expert list Phenotypes Neurological and Developmental Disorder Tags
Red Red List (low evidence)	HTT	2 reviews 1 red	Other	Sources Expert Review Red NHS GMS Phenotypes Huntington disease, OMIM:143100 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	IARS	2 reviews	Not set	Sources Expert list Tags new-gene-name
Red Red List (low evidence)	IER3IP1	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 MEDS Tags
Red Red List (low evidence)	KIF5A	1 review 1 red	Not set	Sources Expert list Phenotypes Myoclonus, intractable, neonatal 617235 Spastic paraplegia 10, autosomal dominant 604187 {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921 Tags
Red Red List (low evidence)	L2HGDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Red Red List (low evidence)	LACTB	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	LARS	2 reviews 1 green	Not set	Sources Expert Tags new-gene-name
Red Red List (low evidence)	MICU2	1 review 1 red	Not set	Sources Expert list Phenotypes severe cognitive impairment and spasticity Tags
Red Red List (low evidence)	MIEF2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Combined oxidative phosphorylation deficiency 49, OMIM:619024 Tags
Red Red List (low evidence)	MRPL12	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) No OMIM phenotype Tags
Red Red List (low evidence)	MRPL40	2 reviews 1 red	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	MRPS23	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes hepatic disease and combined respiratory chain complex deficiencies Tags
Red Red List (low evidence)	MRPS25	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Combined oxidative phosphorylation deficiency 50, OMIM:619025 Tags
Red Red List (low evidence)	MRPS28	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Combined oxidative phosphorylation deficiency 47, OMIM:618958 Tags
Red Red List (low evidence)	MRPS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Victorian Clinical Genetics Services Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) ?Combined oxidative phosphorylation deficiency 34, 617872 Tags
Red Red List (low evidence)	NDUFA3	1 review	Not set	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Isolated complex I deficiency No OMIM phenotype Tags
Red Red List (low evidence)	NDUFA5	1 review	Not set	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Isolated complex I deficiency No OMIM phenotype Tags
Red Red List (low evidence)	NDUFA7	1 review	Not set	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Isolated complex I deficiency No OMIM phenotype Tags
Red Red List (low evidence)	NDUFAB1	1 review	Not set	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Isolated complex I deficiency No OMIM phenotype Tags
Red Red List (low evidence)	NDUFAF7	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	NDUFB1	1 review	Not set	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Isolated complex I deficiency No OMIM phenotype Tags
Red Red List (low evidence)	NDUFB2	1 review	Not set	Sources Expert list Phenotypes Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB4	1 review	Not set	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Isolated complex I deficiency No OMIM phenotype Tags
Red Red List (low evidence)	NDUFB5	1 review	Not set	Sources Expert list Phenotypes Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFB6	1 review	Not set	Sources Expert list Phenotypes Isolated complex I deficiency Tags
Red Red List (low evidence)	NDUFC1	1 review	Not set	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Isolated complex I deficiency No OMIM phenotype Tags
Red Red List (low evidence)	NDUFS5	2 reviews	Not set	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Isolated complex I deficiency No OMIM phenotype Mitochondrial Diseases Tags
Red Red List (low evidence)	NDUFV3	2 reviews	Unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Isolated complex I deficiency No OMIM phenotype Mitochondrial Diseases Tags
Red Red List (low evidence)	NNT	1 review 1 green	Not set	Sources Expert Tags
Red Red List (low evidence)	PAM16	1 review 1 red	Not set	Sources Expert list Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 Tags
Red Red List (low evidence)	PDE12	1 review 1 red	Not set	Sources Expert list Tags
Red Red List (low evidence)	PDK1	1 review 1 green	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	PDK2	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	PDK3	4 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 Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 Tags
Red Red List (low evidence)	PDK4	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	PDP2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Other Tags
Red Red List (low evidence)	PDPR	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Literature Tags
Red Red List (low evidence)	PET117	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 Tags
Red Red List (low evidence)	PNPLA4	1 review 1 red	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	POP1	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	PTCD1	1 review	Not set	Sources Expert list Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red Red List (low evidence)	PTRH2	1 review 1 red	Not set	Sources Expert list Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263 Tags
Red Red List (low evidence)	PYCR1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IIB, 612940 Cutis laxa, autosomal recessive, type IIIB, 614438 Tags
Red Red List (low evidence)	ROBO3	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 Tags
Red Red List (low evidence)	SAMHD1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Aicardi-Goutieres syndrome-5 (AGS5) Tags
Red Red List (low evidence)	SDHAF2	3 reviews 1 green 1 red	Not set	Sources Emory Genetics Laboratory Expert Expert list Phenotypes Mitochondrial Diseases Isolated complex II deficiency Tags
Red Red List (low evidence)	SDHAF3	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	SDHAF4	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	SDHC	1 review 1 green	Not set	Sources Emory Genetics Laboratory Expert Expert list Phenotypes Mitochondrial Diseases Isolated complex II deficiency Tags
Red Red List (low evidence)	SECISBP2	1 review 1 red	Not set	Sources Expert list Tags
Red Red List (low evidence)	SEPSECS	1 review 1 red	Not set	Sources Expert list Tags
Red Red List (low evidence)	SLC25A10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes ?Mitochondrial DNA depletion syndrome 19, OMIM:618972 Tags
Red Red List (low evidence)	SLC25A13	1 review 1 green	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Citrullinemia, adult-onset type II, 603471 Citrullinemia, type II, neonatal-onset, 605814 Tags
Red Red List (low evidence)	SLC25A22	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 3, 609304 Tags
Red Red List (low evidence)	SLC25A40	1 review	Not set	Sources Expert Tags
Red Red List (low evidence)	SLC33A1	1 review 1 red	Not set	Sources Expert list Phenotypes Congenital cataracts, hearing loss, and neurodegeneration 614482 Spastic paraplegia 42, autosomal dominant 612539 Tags
Red Red List (low evidence)	SLC39A8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Congenital disorder of glycosylation, type IIn, OMIM:616721 SLC39A8-CDG, MONDO:0014746 Tags
Red Red List (low evidence)	SLC44A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy Tags
Red Red List (low evidence)	SRRT	2 reviews 1 red	Not set	Sources Expert list Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Tags
Red Red List (low evidence)	STAT2	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes severe neurological deterioration following viral infection elongated mitochondria Immunodeficiency 44, 616636 Tags
Red Red List (low evidence)	STXBP1	1 review 1 red	Not set	Sources Expert list Phenotypes Epileptic encephalopathy, early infantile, 4 612164 Tags
Red Red List (low evidence)	SUCLG2	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	TANGO2	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Tags
Red Red List (low evidence)	TIMM44	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	TMEM126A	1 review 1 green	Not set	Sources Expert Radboud University Medical Center, Nijmegen Phenotypes Optic atrophy-7, 612989 Tags
Red Red List (low evidence)	TRAK1	1 review 1 red	Not set	Sources Expert list Tags
Red Red List (low evidence)	TRAP1	1 review 1 green	Not set	Sources Expert Tags
Red Red List (low evidence)	TXN2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy ?Combined oxidative phosphorylation deficiency 29 Tags
Red Red List (low evidence)	UQCC1	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	UQCR10	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	UQCR11	3 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	UQCRH	1 review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	USMG5	2 reviews	Not set	Sources Expert list Phenotypes Autosomal recessive Leigh syndrome Tags founder-effect new-gene-name
Red Red List (low evidence)	VPS13C	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Parkinson disease 23, autosomal recessive, early onset, 616840 Tags
Red Red List (low evidence)	WFS1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Wolfram syndrome 1, 222300 Deafness, autosomal dominant 6/14/38, 600965 Wolfram-like syndrome, autosomal dominant, 614296 Tags
Red Red List (low evidence)	XRCC4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Short stature, microcephaly, and endocrine dysfunction, OMIM:616541 Tags
No list No list	ACSL4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes Long-chain fatty acid-CoA ligase 4 deficiency Mental retardation Autistic features Intellectual disability Tags
No list No list	CMPK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Mitochondrial UMP-CMP kinase 2 deficiency Developmental delay Failure to thrive Tags
No list No list	IDH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Tags
No list No list	SLC13A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Sodium dicarboxylate cotransporter 3 deficiency Increased urinary dicarboxylic acids, alpha-ketoglutarate, fumarate, N-acetylaspartate Encephalopathy Ataxia Tags
No list No list	SLC13A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Plasma membrane citrate transporter deficiency Epileptic encephalopathy Delayed psychomotor development. Tags

Major version comments

2023-03-22 15:18 Arina Puzriakova (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 13:14 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-09-26 12:17 Sarah Leigh (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.485) was signed off under NHS Genomic Medicine Service governance on (16/09/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

25.04.16 Revised panel after taking into consideration external reviews and information from data sources such as Gene2Phenotype and OMIM. Version upgraded to 1.0.

Mitochondrial disorders (Version 4.169)

20 reviewers

490 Entities

488 reviewed, 277 green

2 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

7 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags