Mitochondrial disease (Version 0.927)

Description

This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.

This panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.

Please note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.

This panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.

Panel Activity

35 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
John Christodoulou (Murdoch Children's Research Institute)
Alison Yeung (Victorian Clinical Genetics Services)
David Thorburn (Murdoch Children's Research Institute)
Eleanor Williams (Genomics England)
Paul De Fazio (Victorian Clinical Genetics Services)
Arina Puzriakova (Genomics England)
Elena Tucker (Murdoch Children's Research Institute)
Samantha Ayres (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Manny Jacobs (Victorian Clinical Genetics Services)
Rylee Peters (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Anna Ritchie (Victorian Clinical Genetics Services)
Lilian Downie (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Krithika Murali (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Hazel Phillimore (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Karina Sandoval (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

407 Entities

397 reviewed, 332 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 407 Entitiess
Green Green List (high evidence)	AARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 8 MIM#614096 Leukoencephalopathy, progressive, with ovarian failure MIM#615889 MONDO:0013570 Tags
Green Green List (high evidence)	ABAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes mtDNA depletion syndrome (MDS) Tags
Green Green List (high evidence)	ABCB7	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Anaemia, sideroblastic, with ataxia, MIM# 301310 Tags
Green Green List (high evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 20 MIM#611126 Tags treatable
Green Green List (high evidence)	ACADM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450 Tags treatable
Green Green List (high evidence)	ACADSB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes 2-methylbutyrylglycinuria MIM#610006 Tags
Green Green List (high evidence)	ACADVL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes VLCAD deficiency MIM#201475 Tags treatable
Green Green List (high evidence)	ACAT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Alpha-methylacetoacetic aciduria MIM#203750 Tags treatable
Green Green List (high evidence)	ACO2	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Infantile cerebellar-retinal degeneration, MIM#614559 Optic atrophy 9, MIM# 616289 Tags
Green Green List (high evidence)	AFG3L2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic ataxia 5, autosomal recessive (MIM#614487) Spinocerebellar ataxia 28 (MIM#610246) Optic atrophy 12, MIM# 618977 Tags
Green Green List (high evidence)	AGK	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	AIFM1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	AMACR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950 Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Tags
Green Green List (high evidence)	APOPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 Tags
Green Green List (high evidence)	APTX	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920 Tags
Green Green List (high evidence)	ATAD3A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810 Tags SV/CNV
Green Green List (high evidence)	ATP5D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120 Tags new gene name
Green Green List (high evidence)	ATP5E	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Tags new gene name
Green Green List (high evidence)	ATP5O	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Tags
Green Green List (high evidence)	BCS1L	3 reviews 3 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Literature Royal Melbourne Hospital Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	BOLA3	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	C12orf65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 55, autosomal recessive, MIM#615035 Combined oxidative phosphorylation deficiency 7, MIM# 613559 Tags new gene name
Green Green List (high evidence)	C19orf70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 37, MIM# 618329 Tags
Green Green List (high evidence)	C1QBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 33, MIM# 617713 Tags
Green Green List (high evidence)	C2orf69	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green Green List (high evidence)	CA5A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751 Tags SV/CNV treatable
Green Green List (high evidence)	CARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 27, MIM# 616672 MONDO:0014728 Tags
Green Green List (high evidence)	CHCHD10	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911 Spinal muscular atrophy, Jokela type 615048 Myopathy, isolated mitochondrial, autosomal dominant 616209 Tags founder
Green Green List (high evidence)	CHCHD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Parkinson disease 22, autosomal dominant MIM#616710 Tags
Green Green List (high evidence)	CHKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541 Intellectual disability Abnormal mitochondria Tags
Green Green List (high evidence)	CISD2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Wolfram syndrome 2 MIM#604928 Tags
Green Green List (high evidence)	CLPB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 Tags
Green Green List (high evidence)	CLPP	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	COA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501 Cardioencephalomyopathy, fatal infantile, MONDO:0014668 Tags
Green Green List (high evidence)	COA7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green Green List (high evidence)	COASY	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodegeneration with brain iron accumulation 6 MIM#615643 Pontocerebellar hypoplasia, type 12 MIM#618266 Tags
Green Green List (high evidence)	COQ2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM# 607426 MONDO:0011829 Tags
Green Green List (high evidence)	COQ4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Spastic ataxia 10, autosomal recessive, MIM# 620666 Tags treatable
Green Green List (high evidence)	COQ6	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	COQ7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 8 MIM#616733 Tags
Green Green List (high evidence)	COQ8A	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags treatable
Green Green List (high evidence)	COQ8B	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	COQ9	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	COX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 Tags
Green Green List (high evidence)	COX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease (MONDO:0044970), COX11-related Tags
Green Green List (high evidence)	COX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 Tags
Green Green List (high evidence)	COX20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054 Tags
Green Green List (high evidence)	COX6A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039 MONDO:0014467 Tags
Green Green List (high evidence)	COX6A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062 Tags
Green Green List (high evidence)	COX6B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Tags
Green Green List (high evidence)	COX7B	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CPT1A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes CPT deficiency, hepatic, type IA MIM#255120 Tags treatable
Green Green List (high evidence)	CPT2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes CPT II deficiency, infantile MIM#600649 CPT II deficiency, lethal neonatal MIM#608836 CPT II deficiency, myopathic, stress-induced MIM#255110 Tags treatable
Green Green List (high evidence)	CRLS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 57, MIM# 620167 Tags
Green Green List (high evidence)	CYC1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CYCS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombocytopenia 4, MIM#612004 Tags
Green Green List (high evidence)	D2HGDH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria MIM#600721 Tags
Green Green List (high evidence)	DARS2	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DGUOK	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DLAT	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DLD	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DNA2	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DNAJC19	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DNAJC30	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leber Hereditary Optic Neuropathy, MIM#619382 Tags
Green Green List (high evidence)	DNM1L	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DNM2	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 Centronuclear myopathy 1 160150 AD 3 Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482 Lethal congenital contracture syndrome 5, MIM# 615368 Tags
Green Green List (high evidence)	EARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome MONDO:0009723 Combined oxidative phosphorylation deficiency 12 MIM#614924 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971 Tags
Green Green List (high evidence)	ECHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome MONDO:0009723 Tags
Green Green List (high evidence)	ELAC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 17, MIM#615440 Tags
Green Green List (high evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutaric acidemia IIA MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Green Green List (high evidence)	ETFB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glutaric acidemia IIB MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Green Green List (high evidence)	ETFDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Glutaric acidemia IIC MIM#231680 Multiple acyl-CoA dehydrogenase deficiency (MADD) Tags treatable
Green Green List (high evidence)	ETHE1	2 reviews 2 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags treatable
Green Green List (high evidence)	FARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes combined oxidative phosphorylation defect type 14 MONDO:0013986 hereditary spastic paraplegia 77 MONDO:0014882 Tags
Green Green List (high evidence)	FASTKD2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 44, MIM# 618855 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 Tags
Green Green List (high evidence)	FBXL4	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FDX2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900 inborn mitochondrial myopathy MONDO:0009637 Tags
Green Green List (high evidence)	FDXR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, MIM#617717 Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Tags
Green Green List (high evidence)	FH	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FLAD1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FOXRED1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 19 MIM#618241 Tags
Green Green List (high evidence)	FXN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Friedreich ataxia, MIM# 229300 Tags
Green Green List (high evidence)	GARS	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, infantile, James type, MIM# 619042 Charcot-Marie-Tooth disease, type 2D, MIM# 601472 Neuronopathy, distal hereditary motor, type VA, MIM# 600794 Multi-system mitochondrial disorder Tags new gene name
Green Green List (high evidence)	GCSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Tags
Green Green List (high evidence)	GDAP1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706 Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340 Charcot-Marie-Tooth disease, type 4A, MIM# 214400 Tags
Green Green List (high evidence)	GFER	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076) Tags
Green Green List (high evidence)	GFM1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GFM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 39, OMIM #618397 Tags
Green Green List (high evidence)	GLRX5	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GPD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of mitochondrial shuttles and carriers transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771 Tags
Green Green List (high evidence)	GTPBP3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 23, MIM#616198 Tags
Green Green List (high evidence)	HADH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530 Tags
Green Green List (high evidence)	HADHA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes LCHAD deficiency MIM#609016 Trifunctional protein deficiency MIM#609015 Tags treatable
Green Green List (high evidence)	HADHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Trifunctional protein deficiency MIM#609015 Tags treatable
Green Green List (high evidence)	HARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Perrault syndrome 2, MIM# 614926 Tags
Green Green List (high evidence)	HCCS	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	HIBCH	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	HLCS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Holocarboxylase synthetase deficiency, MIM# 253270 Tags treatable
Green Green List (high evidence)	HMGCL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes HMG-CoA lyase deficiency MIM#246450 Tags treatable
Green Green List (high evidence)	HMGCS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes HMG-CoA synthase-2 deficiency MIM#605911 Tags
Green Green List (high evidence)	HPDL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green Green List (high evidence)	HSD17B10	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	HSPA9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes even-plus syndrome MONDO:0014801 Disorders of mitochondrial protein quality control Tags
Green Green List (high evidence)	HSPD1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	HTRA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIII, MIM# 617248 Tags
Green Green List (high evidence)	IARS2	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IBA57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330 Tags
Green Green List (high evidence)	IDH2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria 2 MIM#613657 Tags
Green Green List (high evidence)	IDH3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinitis pigmentosa 90, MIM#619007 Tags
Green Green List (high evidence)	ISCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Tags
Green Green List (high evidence)	ISCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370 Tags
Green Green List (high evidence)	ISCU	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KARS	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KIAA0391	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 54, MIM# 619737 Tags new gene name
Green Green List (high evidence)	L2HGDH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of mitochondrial metabolite repair L-2-hydroxyglutaric aciduria MONDO:0009370 Tags
Green Green List (high evidence)	LARS2	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green Green List (high evidence)	LIAS	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	LIG3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Tags
Green Green List (high evidence)	LIPT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Lipoyltransferase 1 deficiency, MIM#616299 Leigh-like presentation Tags
Green Green List (high evidence)	LIPT2	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	LONP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes CODAS syndrome, MIM#600373 Mitochondrial cytopathy Tags
Green Green List (high evidence)	LRPPRC	2 reviews 2 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	LYRM7	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MDH2	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MECR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282 MONDO:0015003 Tags
Green Green List (high evidence)	MFF	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MFN2	2 reviews 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MGME1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 11, MIM# 615084 Tags
Green Green List (high evidence)	MICU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy with extrapyramidal signs, MIM# 615673 Tags founder
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, MIM# 617228 Tags
Green Green List (high evidence)	MORC2	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688. Tags
Green Green List (high evidence)	MPC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial pyruvate carrier deficiency, MIM# 614741 Tags
Green Green List (high evidence)	MPV17	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MRM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 17, MIM# 618567 Tags
Green Green List (high evidence)	MRPL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 9 OMIM #614582 Tags
Green Green List (high evidence)	MRPL39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646 Tags
Green Green List (high evidence)	MRPL44	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 16, MIM# 615395 Tags
Green Green List (high evidence)	MRPS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 36, MIM# 617950 Tags
Green Green List (high evidence)	MRPS22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 5, MIM# 611719 Tags
Green Green List (high evidence)	MRPS23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Hepatic disease Combined respiratory chain complex deficiencies Cardiomyopathy Tubulopathy Lactic acidosis Structural brain abnormalities Combined oxidative phosphorylation deficiency 46, MIM618952 Tags
Green Green List (high evidence)	MRPS34	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 32, MIM# 617664 Tags
Green Green List (high evidence)	MSTO1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Myopathy, mitochondrial, and ataxia, MIM# 617675 Tags
Green Green List (high evidence)	MT-ATP6	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency Tags mtDNA
Green Green List (high evidence)	MT-ATP8	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency Tags mtDNA
Green Green List (high evidence)	MT-CO1	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Leber's optic atrophy Sideroblastic anaemia Cytochrome c oxidase deficiency Myoglobinuria Tags mtDNA
Green Green List (high evidence)	MT-CO2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Cytochrome c oxidase deficiency Tags mtDNA
Green Green List (high evidence)	MT-CO3	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Literature Phenotypes Leigh syndrome Leigh-like syndrome Myopathy Encephalopathy and myopathy Tags
Green Green List (high evidence)	MT-CYB	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Leber's optic atrophy Encephalomyopathy Cardiomyopathy Tags mtDNA
Green Green List (high evidence)	MT-ND1	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex I deficiency Leber's optic neuropathy Deafness Dystonia Tags mtDNA
Green Green List (high evidence)	MT-ND2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex I deficiency Leber's optic neuropathy Tags mtDNA
Green Green List (high evidence)	MT-ND3	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Complex I deficiency Tags mtDNA
Green Green List (high evidence)	MT-ND4	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex I deficiency Leber's optic neuropathy Dystonia Tags mtDNA
Green Green List (high evidence)	MT-ND4L	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Leber's optic atrophy Tags mtDNA
Green Green List (high evidence)	MT-ND5	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex I deficiency Leber's optic neuropathy MERFF Tags mtDNA
Green Green List (high evidence)	MT-ND6	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial cardiomyopathy complex I deficiency Leber's optic neuropathy MELAS Dystonia Striatal necrosis, bilateral Tags mtDNA
Green Green List (high evidence)	MT-RNR1	2 reviews 2 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Deafness Cardiomyopathy Tags mtDNA
Green Green List (high evidence)	MT-TA	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial myopathy Tags mtDNA
Green Green List (high evidence)	MT-TC	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes MELAS Dystonia Tags mtDNA
Green Green List (high evidence)	MT-TD	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial myopathy Tags mtDNA
Green Green List (high evidence)	MT-TE	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial myopathy Deafness Diabetes Tags mtDNA
Green Green List (high evidence)	MT-TF	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes MELAS MERFF Encephalopathy Myopathy Tags mtDNA
Green Green List (high evidence)	MT-TG	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Cardiomyopathy Tags mtDNA
Green Green List (high evidence)	MT-TH	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Dilated cardiomyopathy Retinopathy Deafness MELAS MERFF Tags mtDNA
Green Green List (high evidence)	MT-TI	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial myopathy Encephalopathy Tags mtDNA
Green Green List (high evidence)	MT-TK	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes MERRF Encephalopathy Deafness Cardiomyopathy Tags mtDNA
Green Green List (high evidence)	MT-TL1	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes MELAS Tags mtDNA
Green Green List (high evidence)	MT-TL2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Myopathy Cardiomyopathy Encephalomyopathy Tags mtDNA
Green Green List (high evidence)	MT-TM	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial myopathy Tags mtDNA
Green Green List (high evidence)	MT-TN	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial myopathy Tags
Green Green List (high evidence)	MT-TP	2 reviews 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Expert Review Red Phenotypes MERRF myopathy Tags mtDNA
Green Green List (high evidence)	MT-TQ	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes MELAS deafness mitochondrial myopathy Tags mtDNA
Green Green List (high evidence)	MT-TR	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Encephalomyopathy Tags mtDNA
Green Green List (high evidence)	MT-TS1	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes MERRF MELAS Deafness Tags mtDNA
Green Green List (high evidence)	MT-TS2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes MERRF MELAS Cerebellar ataxia Tags mtDNA
Green Green List (high evidence)	MT-TV	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Ataxia Seizures Deafness Tags mtDNA
Green Green List (high evidence)	MT-TW	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Encephalomyopathy Tags mtDNA
Green Green List (high evidence)	MT-TY	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Progressive external ophthalmoplegia Cardiomyopathy Myopathy Tags mtDNA somatic
Green Green List (high evidence)	MTFMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 15, MIM# 614947 Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248 Tags
Green Green List (high evidence)	MTO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 10, OMIM #614702 Tags
Green Green List (high evidence)	MTPAP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spastic ataxia 4, autosomal recessive 613672 Lethal encephalopathy Tags founder
Green Green List (high evidence)	NADK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Tags
Green Green List (high evidence)	NARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 24 - MIM#616239 Deafness, autosomal recessive 94 - MIM#618434 Tags
Green Green List (high evidence)	NAXD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 Tags
Green Green List (high evidence)	NAXE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 Tags
Green Green List (high evidence)	NDUFA1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NDUFA10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 Tags
Green Green List (high evidence)	NDUFA12	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 23 618244 Tags
Green Green List (high evidence)	NDUFA13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249 Tags
Green Green List (high evidence)	NDUFA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Tags
Green Green List (high evidence)	NDUFA4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Leigh syndrome Complex IV deficiency Tags
Green Green List (high evidence)	NDUFA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253 Tags
Green Green List (high evidence)	NDUFA9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 26 Tags
Green Green List (high evidence)	NDUFAF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234 Tags
Green Green List (high evidence)	NDUFAF2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233 Tags
Green Green List (high evidence)	NDUFAF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240 Tags
Green Green List (high evidence)	NDUFAF4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237 Tags
Green Green List (high evidence)	NDUFAF5	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NDUFAF6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239) Tags
Green Green List (high evidence)	NDUFAF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leigh syndrome Tags
Green Green List (high evidence)	NDUFB10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes fatal infantile lactic acidosis cardiomyopathy Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003 Tags
Green Green List (high evidence)	NDUFB11	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 Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952) MONDO:0010494 Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021) MONDO:0026721 Tags
Green Green List (high evidence)	NDUFB3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246 MONDO:0032629 Tags
Green Green List (high evidence)	NDUFB8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252 Tags
Green Green List (high evidence)	NDUFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 Tags
Green Green List (high evidence)	NDUFS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 Tags
Green Green List (high evidence)	NDUFS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Tags
Green Green List (high evidence)	NDUFS4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010 Leigh syndrome, MIM#252010 Tags
Green Green List (high evidence)	NDUFS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232 Tags
Green Green List (high evidence)	NDUFS7	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NDUFS8	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NDUFV1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NDUFV2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229) Tags deep intronic founder
Green Green List (high evidence)	NFS1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 52, MIM#619386 Complex II/III deficiency multisystem organ failure Tags
Green Green List (high evidence)	NFU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Tags
Green Green List (high evidence)	NUBPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242 Tags
Green Green List (high evidence)	OGDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oxoglutarate dehydrogenase deficiency, MIM# 203740 Developmental delay ataxia seizure raised lactate Tags
Green Green List (high evidence)	OPA1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	OPA3	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR Optic atrophy 3 with cataract (MIM#165300), AD Tags
Green Green List (high evidence)	OXCT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Tags
Green Green List (high evidence)	PAM16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223 Disorders of mitochondrial protein import Tags
Green Green List (high evidence)	PANK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes HARP syndrome MIM#607236 Neurodegeneration with brain iron accumulation 1 MIM#234200 Tags
Green Green List (high evidence)	PARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 75, MIM# 618437 Tags
Green Green List (high evidence)	PC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pyruvate carboxylase deficiency, MIM# 266150 Tags
Green Green List (high evidence)	PDHA1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PDHB	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PDHX	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PDK3	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 Australian Genomics Health Alliance Mitochondrial Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905 Tags
Green Green List (high evidence)	PDP1	2 reviews 2 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PDSS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 2 MIM#614651 Tags
Green Green List (high evidence)	PDSS2	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PET100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags founder
Green Green List (high evidence)	PINK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Parkinson disease 6, early onset, MIM# 605909 Tags
Green Green List (high evidence)	PITRM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spinocerebellar ataxia-30 (SCAR30), MIM#619405 intellectual disability cognitive decline psychosis Tags
Green Green List (high evidence)	PLA2G6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Infantile neuroaxonal dystrophy 1 MIM#256600 Neurodegeneration with brain iron accumulation 2B MIM#610217 Parkinson disease 14, autosomal recessive MIM#612953 Tags
Green Green List (high evidence)	PMPCA	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PMPCB	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PNPLA8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial myopathy with lactic acidosis (MIM#251950), AR Tags
Green Green List (high evidence)	PNPT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 13 (MIM#614932) Deafness, autosomal recessive 70 (MIM#614934) Tags
Green Green List (high evidence)	POLG	2 reviews 2 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	POLG2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 Mitochondrial DNA depletion syndrome 16 , MIM# 618528 Tags
Green Green List (high evidence)	POLRMT	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 55, MIM# 619743 intellectual disability hypotonia Tags
Green Green List (high evidence)	PPA2	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PPCS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cardiomyopathy, dilated, 2C, MIM# 618189 Tags
Green Green List (high evidence)	PPOX	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Porphyria variegata MIM#176200 Tags
Green Green List (high evidence)	PRDX3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia (early onset, mild to moderate, progressive) Tags
Green Green List (high evidence)	PRKN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of mitochondrial protein quality control Parkinson disease MONDO:0005180 Tags
Green Green List (high evidence)	PTCD3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency-51, MIM#619057 Mental retardation optic atrophy Leigh-like syndrome Tags
Green Green List (high evidence)	PTRH2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Miscellaneous disorders associated with mitochondrial dysfunction neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012 Tags
Green Green List (high evidence)	PUS1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	QARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Tags
Green Green List (high evidence)	QRSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 40 Tags
Green Green List (high evidence)	RANBP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Tags
Green Green List (high evidence)	RARS2	2 reviews 1 green 1 red	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RMND1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 11 MIM#614922 Tags
Green Green List (high evidence)	RMRP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of ribosomal biogenesis cartilage-hair hypoplasia MONDO:0009595 Tags
Green Green List (high evidence)	RNASEH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479 Tags
Green Green List (high evidence)	RNF213	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Moyamoya disease, MONDO:0016820 pediatric arterial ischemic stroke, MONDO:0018585 Tags
Green Green List (high evidence)	RRM2B	2 reviews 2 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RTN4IP1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SACS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 Tags
Green Green List (high evidence)	SARS2	2 reviews 2 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Tags
Green Green List (high evidence)	SCO2	2 reviews 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SDHA	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SDHAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Tags
Green Green List (high evidence)	SDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224 Complex II deficiency mitochondrial leucoencephalopathy Tags
Green Green List (high evidence)	SDHD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 Tags
Green Green List (high evidence)	SERAC1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SFXN4	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SHMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly Tags
Green Green List (high evidence)	SLC19A2	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SLC19A3	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SLC22A5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Carnitine deficiency, systemic primary MIM#212140 Tags treatable
Green Green List (high evidence)	SLC25A1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SLC25A12	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SLC25A19	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SLC25A20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes Carnitine-acylcarnitine translocase deficiency MIM#212138 Tags treatable
Green Green List (high evidence)	SLC25A24	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Fontaine progeroid syndrome MIM#612289 Tags
Green Green List (high evidence)	SLC25A26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 28, MIM# 616794 Tags
Green Green List (high evidence)	SLC25A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial phosphate carrier deficiency, MIM# 610773 Tags
Green Green List (high evidence)	SLC25A32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Exercise intolerance, riboflavin-responsive, MIM# 616839 Tags
Green Green List (high evidence)	SLC25A36	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211 Tags
Green Green List (high evidence)	SLC25A38	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Tags
Green Green List (high evidence)	SLC25A4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283 Tags
Green Green List (high evidence)	SLC25A42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416 Tags founder
Green Green List (high evidence)	SLC25A46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green Green List (high evidence)	SLC52A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-Van Laere syndrome 2 MIM#614707 Tags
Green Green List (high evidence)	SLC52A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Brown-Vialetto-Van Laere syndrome 1 MIM#211530 Tags
Green Green List (high evidence)	SPATA5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags
Green Green List (high evidence)	SPG7	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 7, autosomal recessive, MIM# 607259 Autosomal dominant optic atrophy, MONDO:0020250 Tags
Green Green List (high evidence)	SSBP1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Optic atrophy with or without extraocular phenotypes Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 Tags
Green Green List (high evidence)	STAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 44, MIM# 616636 Tags
Green Green List (high evidence)	SUCLA2	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SUCLG1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SURF1	2 reviews 2 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TACO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052 Tags
Green Green List (high evidence)	TAMM41	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 hypotonia developmental delay myopathy ptosis Tags
Green Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878 Tags
Green Green List (high evidence)	TARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 21, MIM# 615918 Tags
Green Green List (high evidence)	TAZ	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TEFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 58, MIM# 620451 Tags
Green Green List (high evidence)	TFAM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156 Tags
Green Green List (high evidence)	TIMM50	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type IX, MIM# 617698 Tags
Green Green List (high evidence)	TIMM8A	2 reviews 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TIMMDC1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 31 MIM#618251 Tags deep intronic
Green Green List (high evidence)	TK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069 Tags
Green Green List (high evidence)	TMEM126A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of complex I subunits and assembly factors autosomal recessive optic atrophy, OPA7 type MONDO:0013069 Tags
Green Green List (high evidence)	TMEM126B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250 Tags
Green Green List (high evidence)	TMEM70	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TOP3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098 Tags
Green Green List (high evidence)	TPK1	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TRAK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 68, MIM# 618201 Tags
Green Green List (high evidence)	TRIT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 35, MIM#617873 Tags
Green Green List (high evidence)	TRMT10C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TRMT5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 26, MIM# 616539 Tags
Green Green List (high evidence)	TRMU	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TRNT1	2 reviews 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TSFM	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TTC19	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TUFM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 4, OMIM #610678 MONDO:0012534 Tags
Green Green List (high evidence)	TWNK	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 Perrault syndrome 5 616138 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286 Tags
Green Green List (high evidence)	TYMP	2 reviews 2 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	UQCC2	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	UQCRB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158 Tags
Green Green List (high evidence)	UQCRC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160 Tags
Green Green List (high evidence)	UQCRFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial Complex III deficiency lactic acidosis fetal bradycardia hypertrophic cardiomyopathy alopecia totalis Tags
Green Green List (high evidence)	VARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 20 OMIM #615917 Tags
Green Green List (high evidence)	VCP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507 Disorders of mitochondrial protein quality control Tags
Green Green List (high evidence)	VPS13C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Early-onset Parkinson disease-23, MIM# 616840 Tags
Green Green List (high evidence)	WARS2	1 review 1 green	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	YARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561 sideroblastic anaemia muscle atrophy myopathy lactic acidosis Hypertrophic cardiomyopathy Hepatomegaly Decreased cytochrome C oxidase activity Tags
Amber Amber List (moderate evidence)	ACADS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 MONDO:0008722 Tags
Amber Amber List (moderate evidence)	APOO	3 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO:0044970, APOO-related Developmental delay Lactic acidosis Muscle weakness Hypotonia Repetitive infections Cognitive impairment Autistic behaviour Tags
Amber Amber List (moderate evidence)	ATP5A1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 22 616045 Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 Mitochondrial disorder, autosomal dominant Tags new gene name
Amber Amber List (moderate evidence)	ATP5B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Inherited dystonia, MONDO:0044807, ATP5B-related Tags
Amber Amber List (moderate evidence)	CEP89	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency Tags
Amber Amber List (moderate evidence)	COX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053 Tags
Amber Amber List (moderate evidence)	COX16	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355 Hypertrophic cardiomyopathy encephalopathy severe fatal lactic acidosis Tags
Amber Amber List (moderate evidence)	COX4I1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 regression seizures short stature mild dysmorphic features Fanconi anemia Tags
Amber Amber List (moderate evidence)	COX5A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064 pulmonary arterial hypertension lactic acidemia failure to thrive isolated complex IV deficiency Tags
Amber Amber List (moderate evidence)	CRAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodegeneration with brain iron accumulation 8, MIM# 617917 Leigh syndrome Tags
Amber Amber List (moderate evidence)	ERAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Perrault syndrome 6, MIM# 617565 Tags
Amber Amber List (moderate evidence)	EXOSC3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Pontocerebellar hypoplasia, type 1B 614678 Intellectual disability Microcephaly Hypotonia Mitochondrial dysfunction Tags
Amber Amber List (moderate evidence)	IDH3B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 46, MIM# 612572 Tags
Amber Amber List (moderate evidence)	LYRM4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 19, MIM# 615595 Tags
Amber Amber List (moderate evidence)	MARS2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert list Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 25, OMIM #616430 Spastic ataxia 3, autosomal recessive, OMIM #611390 Tags
Amber Amber List (moderate evidence)	MPC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related Tags
Amber Amber List (moderate evidence)	MRPL50	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO: 004470, MRPL50-related Tags
Amber Amber List (moderate evidence)	MRPS14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Combined oxidative phosphorylation deficiency 38, MIM# 618378 Tags
Amber Amber List (moderate evidence)	MRPS16	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomcis Health Alliance Leukodystrophy Flagship Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 2 OMIM #610498 Tags
Amber Amber List (moderate evidence)	MRPS7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 34, MIM# 617872 Tags
Amber Amber List (moderate evidence)	NDUFA11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Tags
Amber Amber List (moderate evidence)	NDUFA8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272 Developmental delay microcehaly seizures Tags
Amber Amber List (moderate evidence)	NDUFB7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital lactic acidosis hypertrophic cardiomyopathy Tags
Amber Amber List (moderate evidence)	NDUFB9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Tags
Amber Amber List (moderate evidence)	NDUFC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170 Tags
Amber Amber List (moderate evidence)	NNT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 Tags
Amber Amber List (moderate evidence)	NSUN3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 48, MIM# 619012 Tags
Amber Amber List (moderate evidence)	OXA1L	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes encephalopathy hypotonia developmental delay Tags
Amber Amber List (moderate evidence)	P4HTM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities OMIM #618493 Tags
Amber Amber List (moderate evidence)	RRM1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647 Tags
Amber Amber List (moderate evidence)	SLC25A10	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Intractable epileptic encephalopathy Mitochondrial DNA depletion syndrome 19, MIM# 618972 Tags
Amber Amber List (moderate evidence)	SLC25A21	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial DNA depletion syndrome-18 MIM#618811 Tags
Amber Amber List (moderate evidence)	SLC39A8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIn MIM#616721 Tags
Amber Amber List (moderate evidence)	SQOR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leigh-like disorder Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221 Tags
Amber Amber List (moderate evidence)	TIMM22	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes hypotonia gastroesophageal reflux disease Tags
Amber Amber List (moderate evidence)	TMEM65	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial encephalomyopathy Tags
Amber Amber List (moderate evidence)	TOMM7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Garg-Mishra progeroid syndrome, MIM# 620601 Tags
Amber Amber List (moderate evidence)	TOMM70	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe anaemia Lactic acidosis Developmental delay Tags
Amber Amber List (moderate evidence)	TXN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 29, MIM# 616811 Tags
Amber Amber List (moderate evidence)	UQCC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111 Tags
Amber Amber List (moderate evidence)	UQCRH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex III deficiency, nuclear type 11, MIM#620137 Tags
Amber Amber List (moderate evidence)	UQCRQ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159 Tags
Amber Amber List (moderate evidence)	USMG5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 Tags
Amber Amber List (moderate evidence)	YME1L1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Optic atrophy 11 MIM#617302 Tags
Red Red List (low evidence)	ATP5F1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085 Tags
Red Red List (low evidence)	ATPAF2	2 reviews 2 red	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	COA3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 14, MIM#619058 Tags
Red Red List (low evidence)	COA5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 Tags
Red Red List (low evidence)	COQ5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Coenzyme Q10 deficiency, primary 9, MIM#619028 Cerebellar ataxia encephalopathy generalized tonic-clonic seizures intellectual disability Tags
Red Red List (low evidence)	COX18	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial disease (MONDO:0044970), COX18-related Tags
Red Red List (low evidence)	COX4I2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Tags
Red Red List (low evidence)	COX8A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059 Tags
Red Red List (low evidence)	ERCC6L2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Bone marrow failure syndrome 2, MIM#615715 Tags
Red Red List (low evidence)	GATB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mitochondrial cardiomyopathy Tags
Red Red List (low evidence)	GATC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mitochondrial cardiomyopathy Tags
Red Red List (low evidence)	GMPR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes progressive external ophthalmoplegia Tags
Red Red List (low evidence)	KIF5A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red NHS GMS Victorian Clinical Genetics Services Phenotypes Myoclonus, intractable, neonatal MIM#617235 Tags
Red Red List (low evidence)	MICU2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes cognitive impairment spasticity white matter involvement Tags
Red Red List (low evidence)	MIEF1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Optic atrophy 14 (MIM#620550) Tags
Red Red List (low evidence)	MIEF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 49, MIM# 619024 Progressive muscle weakness Exercise intolerance Ragged red and COX negative fibres Complex I and IV deficiency Tags
Red Red List (low evidence)	MRPL12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Growth retardation neurological deterioration mitochondrial translation deficiency Combined oxidative phosphorylation deficiency 45, MIM#618951 Tags
Red Red List (low evidence)	MRPS25	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 50, MIM# 619025 Dyskinetic cerebral palsy Mitochondrial myopathy Partial agenesis of the corpus callosum Tags
Red Red List (low evidence)	MRPS28	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Intrauterine growth retardation developmental delay dysmorphism Combined oxidative phosphorylation deficiency 47, MIM618958 Tags
Red Red List (low evidence)	MT-RNR2	1 review 1 red	MITOCHONDRIAL	Sources Expert Review Expert Review Red Literature Tags
Red Red List (low evidence)	MT-TT	1 review 1 red	MITOCHONDRIAL	Sources Expert list Expert Review Red Tags mtDNA
Red Red List (low evidence)	NDUFAF7	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Pathologic myopia Tags
Red Red List (low evidence)	NME3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Hypotonia Neurodegeneration Abnormal mitochondrial dynamics Tags
Red Red List (low evidence)	PET117	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063 Developmental delay Tags
Red Red List (low evidence)	PNPLA4	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PTCD1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Cardiomyopathy Tags
Red Red List (low evidence)	PYROXD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial disease, MONDO:0044970 Tags disputed
Red Red List (low evidence)	SDHAF2	1 review 1 red	Unknown	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Red Victorian Clinical Genetics Services Phenotypes Paragangliomas 2, MIM# 601650 Tags
Red Red List (low evidence)	SDHC	0 reviews	Unknown	Sources Expert Review Red Phenotypes Mitochondrial disease MONDO:0044970 Tags
Red Red List (low evidence)	SLIRP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mitochondrial encephalomyopathy with complex I and IV deficiency Tags
Red Red List (low evidence)	XPNPEP3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Nephronophthisis-like nephropathy 1 MIM#613159 Tags

Mitochondrial disease (Version 0.927)

35 reviewers

407 Entities

397 reviewed, 332 green

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Tags

1 review

Sources

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

3 reviews

Sources