Possible mitochondrial disorder - nuclear genes (Version 3.105)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

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

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

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

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

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

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

Panel Activity

16 reviewers

Ellen McDonagh (Genomics England Curator)

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

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

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

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

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

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

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

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

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

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

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

Group: Other
Workplace: Other
Mohamed Nassr (Sandwell & West Birmingham NHS Trust)

Group: Other
Workplace: NHS clinical service
Achchuthan Shanmugasundram (Genomics England Curator)

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

Group: Other
Workplace: Research lab

381 Entities

381 reviewed, 236 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 381 Entitiess
Green Green List (high evidence)	AARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 8, 614096 Leukoencephalopathy, progressive, with ovarian failure, 615889 Tags
Green Green List (high evidence)	ABAT	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome Tags
Green Green List (high evidence)	ABCB7	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Anemia, sideroblastic, with ataxia, 301310 Tags
Green Green List (high evidence)	ACAD9	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 20, 611126 Tags
Green Green List (high evidence)	ACO2	6 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Infantile cerebellar-retinal degeneration, 614559 Tags
Green Green List (high evidence)	AFG3L2	4 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags
Green Green List (high evidence)	AGK	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350 Tags
Green Green List (high evidence)	AIFM1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 6, 300816 Tags
Green Green List (high evidence)	ANO10	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive 10, 613728 Tags
Green Green List (high evidence)	APOPT1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Tags new-gene-name
Green Green List (high evidence)	APTX	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 Tags
Green Green List (high evidence)	ATAD3A	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Harel-Yoon syndrome, OMIM:617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810 Tags
Green Green List (high evidence)	ATP5A1	9 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 Tags new-gene-name
Green Green List (high evidence)	ATP5G3	7 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 Tags new-gene-name
Green Green List (high evidence)	ATPAF2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Tags
Green Green List (high evidence)	BCS1L	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Tags
Green Green List (high evidence)	BOLA3	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299 Tags
Green Green List (high evidence)	BTD	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Biotinidase deficiency, 253260 Tags
Green Green List (high evidence)	C12orf65	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 37, OMIM:618329 Tags new-gene-name
Green Green List (high evidence)	C1QBP	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 33, 617713 Tags
Green Green List (high evidence)	CA5A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 Tags
Green Green List (high evidence)	CARS2	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 27, 616672 Tags
Green Green List (high evidence)	CHCHD10	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Spinal muscular atrophy, Jokela type 615048 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 Tags
Green Green List (high evidence)	CLPB	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Perrault syndrome 3, 614129 Tags
Green Green List (high evidence)	COA6	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 Tags
Green Green List (high evidence)	COA7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 Tags
Green Green List (high evidence)	COQ2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 Tags
Green Green List (high evidence)	COQ4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 7, 616276 Tags
Green Green List (high evidence)	COQ6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 6, 614650 Tags
Green Green List (high evidence)	COQ7	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Coenzyme Q10 deficiency, primary, 8 616733 Tags
Green Green List (high evidence)	COQ8A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016 Tags
Green Green List (high evidence)	COQ8B	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 9, 615573 Tags
Green Green List (high evidence)	COQ9	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 5, 614654 Tags
Green Green List (high evidence)	COX10	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Tags
Green Green List (high evidence)	COX14	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Mitochondrial complex IV deficiency, 220110 Tags
Green Green List (high evidence)	COX15	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 Tags
Green Green List (high evidence)	COX20	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Green Green List (high evidence)	COX4I1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060 Tags
Green Green List (high evidence)	COX6A1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Charcot-Marie-Tooth disease, recessive intermediate D, 616039 Tags
Green Green List (high evidence)	COX6A2	5 reviews 3 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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 Tags
Green Green List (high evidence)	COX7B	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 Tags
Green Green List (high evidence)	CYC1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 6, 615453 Tags
Green Green List (high evidence)	DARS2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green Green List (high evidence)	DGUOK	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 Tags
Green Green List (high evidence)	DLAT	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348 Tags
Green Green List (high evidence)	DLD	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900 Tags
Green Green List (high evidence)	DNA2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 Tags
Green Green List (high evidence)	DNAJC19	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-methylglutaconic aciduria, type V, 610198 Tags
Green Green List (high evidence)	DNM1L	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 Optic atrophy 5, 610708 Tags
Green Green List (high evidence)	DNM2	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Charcot-Marie-Tooth disease, dominant intermediate B, 606482 Charcot-Marie-Tooth disease, axonal type 2M, 606482 Centronuclear myopathy 1, 160150 Tags
Green Green List (high evidence)	EARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 12, 614924 Tags
Green Green List (high evidence)	ECHS1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 Tags
Green Green List (high evidence)	ELAC2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 17, 615440 Tags
Green Green List (high evidence)	ETFDH	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutaric acidemia IIC, 231680 Tags
Green Green List (high evidence)	ETHE1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ethylmalonic encephalopathy, 602473 Tags
Green Green List (high evidence)	FARS2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 14, 614946 Spastic paraplegia 77, autosomal recessive, 617046 Tags
Green Green List (high evidence)	FASTKD2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 44, OMIM:618855 Tags
Green Green List (high evidence)	FBXL4	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) Tags
Green Green List (high evidence)	FDX2	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 Tags
Green Green List (high evidence)	FDXR	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Auditory neuropathy and optic atrophy, 617717 Tags
Green Green List (high evidence)	FH	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Fumarase deficiency, OMIM:606812 Tags
Green Green List (high evidence)	FLAD1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 Tags
Green Green List (high evidence)	FOXRED1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 Tags
Green Green List (high evidence)	GARS	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Neuropathy, distal hereditary motor, type VA, 600794 Charcot-Marie-Tooth disease, type 2D, 601472 Tags new-gene-name
Green Green List (high evidence)	GDAP1	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 Tags
Green Green List (high evidence)	GFM1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 1, 609060 Tags
Green Green List (high evidence)	GFM2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859 ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860 Tags
Green Green List (high evidence)	GTPBP3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 23, 61698 Tags
Green Green List (high evidence)	HARS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Perrault syndrome 2, 614926 Tags
Green Green List (high evidence)	HCCS	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Linear skin defects with multiple congenital anomalies 1, 309801 Tags
Green Green List (high evidence)	HIBCH	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620 Tags
Green Green List (high evidence)	HLCS	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Holocarboxylase synthetase deficiency, 253270 Tags
Green Green List (high evidence)	HSD17B10	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes HSD10 mitochondrial disease, OMIM:300438 Tags
Green Green List (high evidence)	HSPD1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR) Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) Tags
Green Green List (high evidence)	HTRA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-methylglutaconic aciduria, type VIII, 617248 Tags
Green Green List (high evidence)	IARS2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 Tags
Green Green List (high evidence)	IBA57	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 Tags
Green Green List (high evidence)	ISCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 Tags
Green Green List (high evidence)	ISCA2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370 Tags
Green Green List (high evidence)	ISCU	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Myopathy with lactic acidosis, hereditary, 255125 Tags founder-effect non-coding-known-pathogenic
Green Green List (high evidence)	KARS	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Deafness, autosomal recessive 89 613916 ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Tags new-gene-name
Green Green List (high evidence)	LARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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)	LIAS	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462 Tags
Green Green List (high evidence)	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	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes LIPOYLTRANSFERASE 1 DEFICIENCY, 616299 Tags
Green Green List (high evidence)	LIPT2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668 Tags
Green Green List (high evidence)	LONP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes CODAS syndrome, 600373 Tags
Green Green List (high evidence)	LRPPRC	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leigh syndrome, French-Canadian type, 220111 Tags
Green Green List (high evidence)	LYRM4	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 19, OMIM:615595 Tags
Green Green List (high evidence)	LYRM7	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 8, 615838 Tags
Green Green List (high evidence)	MARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spastic ataxia 3, autosomal recessive, 611390 ?Combined oxidative phosphorylation deficiency 25, 616430 Tags
Green Green List (high evidence)	MDH2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Epileptic encephalopathy, early infantile, 51, 617339 Tags
Green Green List (high evidence)	MECR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 Tags
Green Green List (high evidence)	MFF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 Tags
Green Green List (high evidence)	MFN2	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087 Hereditary motor and sensory neuropathy VIA, OMIM:601152 Tags
Green Green List (high evidence)	MGME1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 11, 615084 Tags
Green Green List (high evidence)	MICU1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Myopathy with extrapyramidal signs, 615673 Tags
Green Green List (high evidence)	MIPEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 31, 617228 Tags
Green Green List (high evidence)	MPC1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial pyruvate carrier deficiency, OMIM:614741 Tags
Green Green List (high evidence)	MPV17	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Tags
Green Green List (high evidence)	MRPL3	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 9, 614582 Tags
Green Green List (high evidence)	MRPL44	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 Tags
Green Green List (high evidence)	MRPS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 36, 617950 Tags
Green Green List (high evidence)	MRPS22	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 5, 611719 Tags
Green Green List (high evidence)	MRPS34	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 32, 617664 Tags
Green Green List (high evidence)	MSTO1	4 reviews 2 green	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)	MTFMT	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 10, 614702 Tags
Green Green List (high evidence)	MTPAP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 Tags
Green Green List (high evidence)	NADK2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 Tags
Green Green List (high evidence)	NARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 24, 616239 Tags
Green Green List (high evidence)	NAXE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 Tags
Green Green List (high evidence)	NDUFA1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 12, 301020 Tags
Green Green List (high evidence)	NDUFA10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 22, 618243 Tags
Green Green List (high evidence)	NDUFA11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 14, 618236 Tags
Green Green List (high evidence)	NDUFA12	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Green Green List (high evidence)	NDUFA13	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249 Tags
Green Green List (high evidence)	NDUFA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 13, 618235 Tags
Green Green List (high evidence)	NDUFA4	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes No OMIM phenotype Mitochondrial complex IV deficiency Tags
Green Green List (high evidence)	NDUFA6	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 Tags
Green Green List (high evidence)	NDUFA8	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272 Tags
Green Green List (high evidence)	NDUFA9	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 Tags
Green Green List (high evidence)	NDUFAF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 11, 618234 Tags
Green Green List (high evidence)	NDUFAF2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 Tags
Green Green List (high evidence)	NDUFAF3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 18, 618240 Tags
Green Green List (high evidence)	NDUFAF4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 15, 618237 Tags
Green Green List (high evidence)	NDUFAF5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 16, 616238 Tags
Green Green List (high evidence)	NDUFAF6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 17, 612392 Tags
Green Green List (high evidence)	NDUFAF8	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 Tags gene-checked
Green Green List (high evidence)	NDUFB10	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 Tags
Green Green List (high evidence)	NDUFB11	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes ?Mitochondrial complex I deficiency, nuclear type 30, 301021 Linear skin defects with multiple congenital anomalies 3, 300952 Tags
Green Green List (high evidence)	NDUFB3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 Tags
Green Green List (high evidence)	NDUFB8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 Tags
Green Green List (high evidence)	NDUFC2	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 Tags
Green Green List (high evidence)	NDUFS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Tags
Green Green List (high evidence)	NDUFS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 6, 618228 Tags
Green Green List (high evidence)	NDUFS3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 Tags
Green Green List (high evidence)	NDUFS4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010 Tags
Green Green List (high evidence)	NDUFS6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 9, 618232 Tags
Green Green List (high evidence)	NDUFS7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 3, 618224 Tags
Green Green List (high evidence)	NDUFS8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222 Tags
Green Green List (high evidence)	NDUFV1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 4, 618225 Tags
Green Green List (high evidence)	NDUFV2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 7, 618229 Tags
Green Green List (high evidence)	NFS1	7 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 52, OMIM:619386 Tags
Green Green List (high evidence)	NFU1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 Tags
Green Green List (high evidence)	NSUN3	5 reviews 3 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	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 21, 618242 Tags
Green Green List (high evidence)	OPA1	4 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Optic atrophy 1, 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	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-methylglutaconic aciduria, type III, 258501 Optic atrophy 3 with cataract, 165300 Tags
Green Green List (high evidence)	PARS2	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Infantile-onset encephalopathy Alpers syndrome Infantile-onset neurodegenerative disorder Epileptic encephalopathy, early infantile, 75, 61843 Tags
Green Green List (high evidence)	PC	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Pyruvate carboxylase deficiency, OMIM:266150 Tags
Green Green List (high evidence)	PDHA1	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170 Tags
Green Green List (high evidence)	PDHB	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 Tags
Green Green List (high evidence)	PDHX	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349 Tags
Green Green List (high evidence)	PDP1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782 Tags
Green Green List (high evidence)	PDSS1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 2, 614651 Tags
Green Green List (high evidence)	PDSS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652 Tags
Green Green List (high evidence)	PET100	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Green Green List (high evidence)	PMPCA	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200 Tags
Green Green List (high evidence)	PMPCB	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954 multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 Tags
Green Green List (high evidence)	PNPLA8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 Tags
Green Green List (high evidence)	PNPT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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	4 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 Progressive external ophthalmoplegia, autosomal dominant 1, 157640 Progressive external ophthalmoplegia, autosomal recessive 1, 258450 Tags
Green Green List (high evidence)	POLG2	4 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528 Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 Tags
Green Green List (high evidence)	POLRMT	4 reviews 3 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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Sudden cardiac failure, infantile, 617222 ?Sudden cardiac failure, alcohol-induced, 617223 Tags
Green Green List (high evidence)	PUS1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 Tags
Green Green List (high evidence)	QRSL1	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 40, OMIM:618835 Tags
Green Green List (high evidence)	RARS2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Pontocerebellar hypoplasia, type 6, 611523 Tags
Green Green List (high evidence)	RMND1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 11, 614922 Tags
Green Green List (high evidence)	RNASEH1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Tags
Green Green List (high evidence)	RRM2B	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Tags
Green Green List (high evidence)	RTN4IP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 Tags
Green Green List (high evidence)	SACS	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 Tags
Green Green List (high evidence)	SARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 Tags
Green Green List (high evidence)	SCO1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
Green Green List (high evidence)	SCO2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Tags
Green Green List (high evidence)	SDHA	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 Tags
Green Green List (high evidence)	SDHB	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 Tags
Green Green List (high evidence)	SDHD	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 Tags
Green Green List (high evidence)	SERAC1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Tags
Green Green List (high evidence)	SFXN4	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 18, 615578 Tags
Green Green List (high evidence)	SLC19A2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270 Tags
Green Green List (high evidence)	SLC19A3	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483 Tags
Green Green List (high evidence)	SLC25A1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 Tags
Green Green List (high evidence)	SLC25A12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Epileptic encephalopathy, early infantile, 39, 612949 Tags
Green Green List (high evidence)	SLC25A19	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes MICROCEPHALY, AMISH TYPE, 607196 THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710 Tags
Green Green List (high evidence)	SLC25A26	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794 Tags
Green Green List (high evidence)	SLC25A3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial phosphate carrier deficiency, 610773 Tags
Green Green List (high evidence)	SLC25A32	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Exercise intolerance, riboflavin-responsive, 616839 Tags gene-checked treatable
Green Green List (high evidence)	SLC25A38	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 Tags
Green Green List (high evidence)	SLC25A4	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 Tags
Green Green List (high evidence)	SLC25A42	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 Tags
Green Green List (high evidence)	SLC25A46	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 Tags
Green Green List (high evidence)	SPG7	5 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags
Green Green List (high evidence)	SQOR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leigh syndrome Tags
Green Green List (high evidence)	SSBP1	4 reviews 3 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 Tags
Green Green List (high evidence)	SUCLA2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Tags
Green Green List (high evidence)	SUCLG1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 Tags
Green Green List (high evidence)	SURF1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Charcot-Marie-Tooth disease, type 4K, 616684 Leigh syndrome, due to COX IV deficiency, 256000 Tags
Green Green List (high evidence)	TACO1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Green Green List (high evidence)	TARS2	7 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 21, OMIM:615918 Tags
Green Green List (high evidence)	TAZ	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Barth syndrome, 302060 Tags new-gene-name
Green Green List (high evidence)	TFAM	5 reviews 3 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 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes 3-methylglutaconic aciduria, type IX, 617698 Tags
Green Green List (high evidence)	TIMM8A	4 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Mohr-Tranebjaerg syndrome, 304700 Tags
Green Green List (high evidence)	TIMMDC1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251 Tags
Green Green List (high evidence)	TK2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 Tags
Green Green List (high evidence)	TMEM126B	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 Tags
Green Green List (high evidence)	TMEM70	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Tags
Green Green List (high evidence)	TOP3A	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 Tags
Green Green List (high evidence)	TPK1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458 Tags
Green Green List (high evidence)	TRIT1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 35, OMIM:617873 combined oxidative phosphorylation deficiency 35, MONDO:0054742 Tags gene-checked
Green Green List (high evidence)	TRMT10C	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 30, 616974 Tags
Green Green List (high evidence)	TRMT5	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 26, 616539 Tags
Green Green List (high evidence)	TRMU	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes LIVER FAILURE, INFANTILE, TRANSIENT, 613070 Tags
Green Green List (high evidence)	TRNT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 Retinitis pigmentosa and erythrocytic microcytosis, 616959 Tags
Green Green List (high evidence)	TSFM	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 3, 610505 Tags
Green Green List (high evidence)	TTC19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Green Green List (high evidence)	TUFM	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 4, 610678 Tags
Green Green List (high evidence)	TWNK	6 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 Perrault syndrome 5, OMIM:616138 Tags
Green Green List (high evidence)	TYMP	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 Tags
Green Green List (high evidence)	UQCC2	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 Tags
Green Green List (high evidence)	UQCRB	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 Tags
Green Green List (high evidence)	UQCRC2	7 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160 Tags
Green Green List (high evidence)	UQCRFS1	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 Tags
Green Green List (high evidence)	VARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 20, 615917 Tags
Green Green List (high evidence)	WARS2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 Tags
Green Green List (high evidence)	YARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 Tags
Amber Amber List (moderate evidence)	ATP5B	7 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 Tags new-gene-name
Amber Amber List (moderate evidence)	ATP5C1	5 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Amber Amber List (moderate evidence)	ATP5E	7 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053 mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 Tags Q1_24_NHS_review Q1_24_promote_green watchlist
Amber Amber List (moderate evidence)	ATP5G1	5 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Amber Amber List (moderate evidence)	ATP5G2	5 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Amber Amber List (moderate evidence)	ATP5I	5 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Amber Amber List (moderate evidence)	ATP5J	5 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Amber Amber List (moderate evidence)	ATP5O	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 Tags new-gene-name Q2_23_promote_green Q3_23_NHS_review
Amber Amber List (moderate evidence)	C2orf69	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 combined oxidative phosphorylation deficiency 53, MONDO:0030378 Tags gene-checked Q2_23_promote_green Q3_23_NHS_review
Amber Amber List (moderate evidence)	CEP89	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	COA1	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	COA3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	COA5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 Tags
Amber Amber List (moderate evidence)	COQ5	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	COX11	5 reviews 2 green	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_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	COX16	5 reviews 1 green	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
Amber Amber List (moderate evidence)	COX4I2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 Tags
Amber Amber List (moderate evidence)	COX5A	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	COX5B	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	COX6C	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	COX7A1	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	COX7C	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	COX8A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Mitochondrial complex IV deficiency, 220110 Tags
Amber Amber List (moderate evidence)	CRLS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 57, OMIM:620167 Tags Q1_23_promote_green Q3_23_NHS_review
Amber Amber List (moderate evidence)	CYCS	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Thrombocytopenia 4, OMIM:612004 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	ERAL1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Perrault syndrome 6, 617565 Tags
Amber Amber List (moderate evidence)	GATB	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 Tags
Amber Amber List (moderate evidence)	GATC	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial cardiomyopathy disorder Tags
Amber Amber List (moderate evidence)	HADHB	2 reviews 1 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 1 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)	HSPA9	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Even-plus syndrome, OMIM:616854 Anemia, sideroblastic, 4, OMIM:182170 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	IDH3A	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Retinitis pigmentosa 90, OMIM:619007 retinitis pigmentosa 90, MONDO:0033563 Tags Q2_23_promote_green Q3_23_NHS_review
Amber Amber List (moderate evidence)	IDH3B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Retinitis pigmentosa 46, 612572 Tags
Amber Amber List (moderate evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags Q3_23_MOI Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	MRM2	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Mitochondrial DNA depletion syndrome 17, OMIM:618567 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	MRPL12	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Growth retardation and neurological deterioration Tags
Amber Amber List (moderate evidence)	MRPS14	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 Tags
Amber Amber List (moderate evidence)	MRPS16	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 2, 610498 Tags
Amber Amber List (moderate evidence)	MRPS23	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Hepatic disease Tags
Amber Amber List (moderate evidence)	MRPS7	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Combined oxidative phosphorylation deficiency 34, 617872 Tags
Amber Amber List (moderate evidence)	NDUFA3	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	NDUFA5	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	NDUFA7	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	NDUFAB1	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	NDUFB1	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	NDUFB2	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	NDUFB4	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	NDUFB5	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	NDUFB6	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	NDUFB7	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 Tags
Amber Amber List (moderate evidence)	NDUFB9	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Mitochondrial complex I deficiency, nuclear type 24, 618245 Tags
Amber Amber List (moderate evidence)	NDUFC1	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	NDUFS5	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	NDUFV3	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	OXA1L	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	OXCT1	2 reviews 1 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 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes HARP syndrome, 607236 Neurodegeneration with brain iron accumulation 1, 234200 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PET117	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 Tags
Amber Amber List (moderate evidence)	PPOX	2 reviews 1 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	5 reviews 3 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_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	QARS	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 Tags new-gene-name Q3_23_promote_green
Amber Amber List (moderate evidence)	SDHAF2	5 reviews 2 green 1 red	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	SDHC	4 reviews 2 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	SLC25A21	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	TIMM22	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	TMEM65	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	TXN2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Combined oxidative phosphorylation deficiency 29, 616811 Tags
Amber Amber List (moderate evidence)	UQCC3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Mitochondrial complex III deficiency, nuclear type 9, 616111 Tags
Amber Amber List (moderate evidence)	UQCRC1	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Parkinsonism with polyneuropathy, OMIM:619279 Tags
Amber Amber List (moderate evidence)	UQCRH	4 reviews 1 green	Unknown	Sources Expert Review Amber NHS GMS Phenotypes No OMIM phenotype Tags
Amber Amber List (moderate evidence)	UQCRQ	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 Tags
Amber Amber List (moderate evidence)	YME1L1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Optic atrophy 11, 617302 Tags
Red Red List (low evidence)	ACADM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 Tags
Red Red List (low evidence)	ACADS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 Tags
Red Red List (low evidence)	ACADSB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes 2-methylbutyrylglycinuria, 610006 Tags
Red Red List (low evidence)	ACADVL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes VLCAD deficiency, 201475 Tags
Red Red List (low evidence)	ACAT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Alpha-methylacetoacetic aciduria, 203750 Tags
Red Red List (low evidence)	ATP5F1	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5H	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5J2	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5L	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATP5L2	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags new-gene-name
Red Red List (low evidence)	ATPAF1	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	C19orf12	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Neurodegeneration with brain iron accumulation 4, 614298 ?Spastic paraplegia 43, autosomal recessive, 615043 Tags
Red Red List (low evidence)	CHKB	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Muscular dystrophy, congenital, megaconial type, 602541 Tags
Red Red List (low evidence)	CISD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Wolfram syndrome 2, 604928 Tags
Red Red List (low evidence)	COA4	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COASY	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Pontocerebellar hypoplasia, type 12, 618266 Neurodegeneration with brain iron accumulation 6, 615643 Tags
Red Red List (low evidence)	COX17	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX18	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX19	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	COX6B2	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype 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)	D2HGDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes D-2-hydroxyglutaric aciduria, 600721 Tags
Red Red List (low evidence)	DARS	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 Tags new-gene-name
Red Red List (low evidence)	DCC	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mirror movements 1 and/or agenesis of the corpus callosum, 157600 Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 Tags
Red Red List (low evidence)	DHTKD1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025 2-aminoadipic 2-oxoadipic aciduria, 204750 Tags
Red Red List (low evidence)	ECSIT	3 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	ETFA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Glutaric acidemia IIA ,231680 Tags
Red Red List (low evidence)	ETFB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Glutaric acidemia IIB ,231680 Tags
Red Red List (low evidence)	FXN	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags nucleotide-repeat-expansion
Red Red List (low evidence)	G6PC	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Glycogen storage disease Ia, OMIM:232200 Tags new-gene-name
Red Red List (low evidence)	GATM	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Cerebral creatine deficiency syndrome 3, OMIM:612718 Tags
Red Red List (low evidence)	GLUD1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Hyperinsulinism-hyperammonemia syndrome, 606762 Tags
Red Red List (low evidence)	HADH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Hyperinsulinemic hypoglycemia, familial, 4, 609975 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 Tags
Red Red List (low evidence)	HADHA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Trifunctional protein deficiency, 609015 LCHAD deficiency, 609016 Tags
Red Red List (low evidence)	HMGCL	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Other Phenotypes HMG-CoA lyase deficiency, 246450 Tags
Red Red List (low evidence)	HMGCS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes HMG-CoA synthase-2 deficiency, 605911 Tags
Red Red List (low evidence)	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)	IER3IP1	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Other Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 Tags
Red Red List (low evidence)	L2HGDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes L-2-hydroxyglutaric aciduria, 236792 Tags
Red Red List (low evidence)	NDUFAF7	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	NNT	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 Tags
Red Red List (low evidence)	PDK3	5 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red NHS GMS Phenotypes ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 Tags
Red Red List (low evidence)	PDP2	4 reviews 2 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes None Tags
Red Red List (low evidence)	PDPR	4 reviews 1 green 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes None Tags
Red Red List (low evidence)	PITRM1	4 reviews 2 green 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	PNPLA4	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	PYCR1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Cutis laxa, autosomal recessive, type IIIB, 614438 Cutis laxa, autosomal recessive, type IIB, 612940 Tags
Red Red List (low evidence)	ROBO3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 Tags
Red Red List (low evidence)	SAMHD1	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Aicardi-Goutieres syndrome 5, 612952 Tags
Red Red List (low evidence)	SDHAF3	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	SDHAF4	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	SLC22A5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
Red Red List (low evidence)	SLC25A13	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Citrullinemia, adult-onset type II, 603471 Citrullinemia, type II, neonatal-onset 605814 Tags
Red Red List (low evidence)	SLC25A20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Carnitine-acylcarnitine translocase deficiency, 212138 Tags
Red Red List (low evidence)	SLC25A22	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Epileptic encephalopathy, early infantile, 3, 609304 Tags
Red Red List (low evidence)	SLC25A40	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	SLC52A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Brown-Vialetto-Van Laere syndrome 2, 614707 Tags
Red Red List (low evidence)	SLC52A3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 Tags
Red Red List (low evidence)	SLIRP	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial encephalomyopathy with complex I and IV deficiency Tags
Red Red List (low evidence)	SRRT	3 reviews 2 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	STAT2	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Immunodeficiency 44, 616636 Tags
Red Red List (low evidence)	SUCLG2	2 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes None Tags
Red Red List (low evidence)	TANGO2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 Tags
Red Red List (low evidence)	TIMM44	4 reviews 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	TMEM126A	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Optic atrophy 7, 612989 Tags
Red Red List (low evidence)	TRAP1	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	UQCC1	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	UQCR10	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	UQCR11	4 reviews 1 green	Unknown	Sources Expert Review Red NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	VPS13C	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Parkinson disease 23, autosomal recessive, early onset, 616840 Tags
Red Red List (low evidence)	WFS1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Deafness, autosomal dominant 6/14/38, 600965 Wolfram-like syndrome, autosomal dominant, 614296 Wolfram syndrome 1, 222300 Tags
Red Red List (low evidence)	XPNPEP3	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Nephronophthisis-like nephropathy 1, 613159 Tags

Major version comments

2023-03-22 14:55 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.

2022-11-30 14:57 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 2.0
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 (2.0) following this.

2019-07-31 16:45 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.204) was signed off under NHS Genomic Medicine Service governance on (31/07/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Possible mitochondrial disorder - nuclear genes (Version 3.105)

16 reviewers

381 Entities

381 reviewed, 236 green

3 reviews

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5 reviews

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3 reviews

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6 reviews

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4 reviews

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4 reviews

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3 reviews

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4 reviews

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4 reviews

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4 reviews

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4 reviews

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9 reviews

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3 reviews

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7 reviews

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3 reviews

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3 reviews

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4 reviews

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4 reviews

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