qGenEx® EM. Panell d’Enfermetats Mitocondrials

Gene	Median coverage	% covered > 10x	% covered > 20x	Associated Phenotype description and OMIM disease ID
AARS2	132.9	0.99	0.98	Combined oxidative phosphorylation deficiency 8	614096
AARS2	132.9	0.99	0.98	Leukoencephalopathy, progressive, with ovarian failure,	615889
ABAT	103	1	0.99	GABA-transaminase deficiency,	613163
ACAD9	154	0.99	0.96	Mitochondrial complex I deficiency due to ACAD9 deficiency,	611126
ACO2	138.6	0.96	0.92	Infantile cerebellar-retinal degeneration,	614559
ACO2	138.6	0.96	0.92	?Optic atrophy 9	616289
ADCK3	146	0.99	0.98	Coenzyme Q10 deficiency, primary, 4	612016
ADCK4	106.9	1	0.99	Nephrotic syndrome, type 9	615573
AFG3L2	126.4	0.92	0.85	Ataxia, spastic, 5 autosomal recessive,	614487
AFG3L2	126.4	0.92	0.85	Spinocerebellar ataxia 28	610246
AGK	137.6	0.99	0.97	Cataract 38 autosomal recessive,	614691
AGK	137.6	0.99	0.97	Sengers syndrome,	212350
AIFM1	133.5	1	0.99	Combined oxidative phosphorylation deficiency 6	300816
AIFM1	133.5	1	0.99	Cowchock syndrome,	310490
AIFM1	133.5	1	0.99	Deafness, X-linked 5	300614
ALDH1B1	224.6	1	1	No OMIM phenotype	300614
ALDH1B1	224.6	1	1	Bladder cancer (Nickerson -2014 Clin Cancer Res 20,4935)	300614
ANO10	126.6	0.99	0.96	Spinocerebellar ataxia, autosomal recessive 10	613728
APOA1BP	95.9	0.99	0.99	No OMIM phenotype	613728
APOA1BP	95.9	0.99	0.99	Leukoencephalopathy, lethal infantile (Spiegel -2016 Neurogenetics epub,epub)	613728
APOPT1	80.9	0.87	0.84	Mitochondrial complex IV deficiency,	220110
APTX	136.6	0.93	0.9	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia,	208920
ATAD3A	93	0.89	0.85	No OMIM phenotype	208920
ATAD3B	86.3	0.85	0.78	No OMIM phenotype	208920
ATP5A1	81.9	0.94	0.85	?Combined oxidative phosphorylation deficiency 22	616045
ATP5A1	81.9	0.94	0.85	?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4	615228
ATP5B	142.2	1	0.99	No OMIM phenotype	615228
ATP5C1	101.2	0.97	0.9	No OMIM phenotype	615228
ATP5D	65.3	0.96	0.86	No OMIM phenotype	615228
ATP5E	203.2	1	1	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3	614053
ATP5F1	86.1	0.96	0.86	No OMIM phenotype	614053
ATP5G1	112.3	1	0.97	No OMIM phenotype	614053
ATP5G2	84.3	0.99	0.97	No OMIM phenotype	614053
ATP5G3	125.7	1	1	No OMIM phenotype	614053
ATP5H	106	0.88	0.7	No OMIM phenotype	614053
ATP5I	91.6	1	1	No OMIM phenotype	614053
ATP5J	73.3	0.99	0.92	No OMIM phenotype	614053
ATP5J2	129.9	0.99	0.99	No OMIM phenotype	614053
ATP5L	123.5	0.99	0.99	No OMIM phenotype	614053
ATP5L2	172.7	1	1	No OMIM phenotype	614053
ATP5O	119.2	0.98	0.92	No OMIM phenotype	614053
ATP5S	139.8	1	0.99	No OMIM phenotype	614053
ATPAF1	96.8	0.82	0.71	No OMIM phenotype	614053
ATPAF2	114.3	1	0.99	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1	604273
ATPIF1	197.1	1	1	No OMIM phenotype	604273
BCS1L	184.4	1	1	Bjornstad syndrome,	262000
BCS1L	184.4	1	1	GRACILE syndrome,	603358
BCS1L	184.4	1	1	Leigh syndrome,	256000
BCS1L	184.4	1	1	Mitochondrial complex III deficiency, nuclear type 1	124000
BOLA1	113.6	1	1	No OMIM phenotype	124000
BOLA2	105.9	1	0.99	No OMIM phenotype	124000
BOLA3	59	0.91	0.82	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia,	614299
C10orf2	193.6	1	1	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type),	271245
C10orf2	193.6	1	1	Perrault syndrome 5	616138
C10orf2	193.6	1	1	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	609286
C11orf83	110.9	1	0.98	?Mitochondrial complex III deficiency, nuclear type 9	616111
C12orf65	91.3	0.97	0.92	Combined oxidative phosphorylation deficiency 7	613559
C12orf65	91.3	0.97	0.92	Spastic paraplegia 55 autosomal recessive,	615035
C19orf12	100.8	1	0.99	Neurodegeneration with brain iron accumulation 4	614298
C19orf12	100.8	1	0.99	?Spastic paraplegia 43 autosomal recessive,	615043
C19orf70	64.2	0.99	0.97	No OMIM phenotype	615043
CARS2	128.6	1	0.99	Combined oxidative phosphorylation deficiency 27	616672
CEP89	155.7	0.99	0.97	No OMIM phenotype	616672
CEP89	155.7	0.99	0.97	Complex IV deficiency,isolated (van Bon -2013 Hum Mol Genet 22,3138)	616672
CEP89	155.7	0.99	0.97	?Intellectual disability (Vulto-van Silfhout -2013 Hum Mutat 34,1679)	616672
CHCHD10	25.8	0.58	0.38	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911
CHCHD10	25.8	0.58	0.38	Spinal muscular atrophy, Jokela type,	615048
CHCHD10	25.8	0.58	0.38	?Myopathy, isolated mitochondrial, autosomal dominant,	616209
CHKB	101.2	0.99	0.96	Muscular dystrophy, congenital, megaconial type,	602541
CLPB	152.7	0.96	0.95	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia,	616271
CLPP	128.5	0.99	0.95	Perrault syndrome 3	614129
COA1	94.6	1	0.99	No OMIM phenotype	614129
COA3	156.2	1	1	No OMIM phenotype	614129
COA3	156.2	1	1	Neuropathy,exercise intolerance,obesity and short stature (Ostergaard -2015 J Med Genet 52,203	614129
COA5	52.2	0.85	0.84	?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	616500
COA6	76.6	0.95	0.87	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	616501
COASY	168	1	1	Neurodegeneration with brain iron accumulation 6	615643
COQ2	84.5	0.95	0.92	Coenzyme Q10 deficiency, primary, 1	607426
COQ2	84.5	0.95	0.92	{Multiple system atrophy, susceptibility to},	146500
COQ4	94	0.86	0.82	Coenzyme Q10 deficiency, primary, 7	616276
COQ6	154.8	0.98	0.96	Coenzyme Q10 deficiency, primary, 6	614650
COQ7	188.1	0.99	0.98	?Coenzyme Q10 deficiency, primary, 8	616733
COQ9	105.7	0.99	0.98	Coenzyme Q10 deficiency, primary, 5	614654
COX10	240.2	1	0.99	Leigh syndrome due to mitochondrial COX4 deficiency,	256000
COX10	240.2	1	0.99	Mitochondrial complex IV deficiency,	220110
COX14	146.5	1	0.99	?Mitochondrial complex IV deficiency,	220110
COX15	105.9	1	0.99	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	615119
COX15	105.9	1	0.99	Leigh syndrome due to cytochrome c oxidase deficiency,	256000
COX20	52.3	0.9	0.73	Mitochondrial complex IV deficiency,	220110
COX4I1	160.6	1	1	No OMIM phenotype	220110
COX4I1	160.6	1	1	?Schizophrenia (Fromer -2014 Nature 506,179)	220110
COX4I2	107	1	1	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis,	612714
COX5A	47.2	0.87	0.65	No OMIM phenotype	612714
COX5B	143.8	1	0.99	No OMIM phenotype	612714
COX6A1	205.9	1	0.99	Charcot-Marie-Tooth disease, recessive intermediate D,	616039
COX6A2	51.6	0.99	0.96	No OMIM phenotype	616039
COX6B1	174.5	1	1	Mitochondrial complex IV deficiency,	220110
COX6B2	61	1	0.98	No OMIM phenotype	220110
COX6C	144.3	0.99	0.94	No OMIM phenotype	220110
COX7A1	109.6	0.99	0.99	No OMIM phenotype	220110
COX7A2	95	0.98	0.93	No OMIM phenotype	220110
COX7A2	95	0.98	0.93	{insulin secretion,association with} (Olsson -2011 Eur J Endocrinol 164,765)	220110
COX7B	60.7	0.76	0.49	Linear skin defects with multiple congenital anomalies,	300887
COX7B2	305.4	1	1	No OMIM phenotype	300887
COX7C	65.4	0.99	0.95	No OMIM phenotype	300887
COX8A	120.4	1	1	?Mitochondrial complex IV deficiency,	220110
COX8C	180.6	0.99	0.96	No OMIM phenotype	220110
CYC1	198.4	0.95	0.89	Mitochondrial complex III deficiency, nuclear type 6	615453
CYCS	77.9	0.99	0.95	Thrombocytopenia 4	612004
DARS2	137.8	0.99	0.99	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation,	611105
DDHD1	166.1	0.96	0.94	Spastic paraplegia 28 autosomal recessive,	609340
DES	138.3	0.99	0.98	Cardiomyopathy, dilated, 1I,	604765
DES	138.3	0.99	0.98	Myopathy, myofibrillar, 1	601419
DES	138.3	0.99	0.98	Scapuloperoneal syndrome, neurogenic, Kaeser type,	181400
DES	138.3	0.99	0.98	?Muscular dystrophy, limb-girdle, type 2R,	615325
DGUOK	134.6	0.99	0.98	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type),	251880
DHTKD1	162.9	0.99	0.97	2-aminoadipic 2-oxoadipic aciduria,	204750
DHTKD1	162.9	0.99	0.97	?Charcot-Marie-Tooth disease, axonal, type 2Q,	615025
DLAT	102.4	0.99	0.95	Pyruvate dehydrogenase E2 deficiency,	245348
DLD	142	0.99	0.97	Dihydrolipoamide dehydrogenase deficiency,	246900
DLST	105.1	0.93	0.89	No OMIM phenotype	246900
DLST	105.1	0.93	0.89	?Diaphragmatic hernia,congenital (Yu -2015 Hum Mol Genet 24,4764)	246900
DNA2	149.3	0.99	0.97	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156
DNA2	149.3	0.99	0.97	?Seckel syndrome 8	615807
DNAJC19	105.3	0.97	0.9	3-methylglutaconic aciduria, type V,	610198
DNAJC3	131	0.99	0.98	?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus,	616192
DNM1L	131.5	0.99	0.96	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission,	614388
EARS2	110.1	0.99	0.97	Combined oxidative phosphorylation deficiency 12	614924
ECHS1	128	1	0.99	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,	616277
ECSIT	152.8	0.99	0.97	No OMIM phenotype	616277
ECSIT	152.8	0.99	0.97	?Complex I deficiency (Calvo -2010 Nat Genet 42,851)	616277
ELAC2	133	1	0.99	Combined oxidative phosphorylation deficiency 17	615440
ELAC2	133	1	0.99	{Prostate cancer, hereditary, 2 susceptibility to},	614731
ETHE1	86.4	0.99	0.94	Ethylmalonic encephalopathy,	602473
FARS2	224.8	1	0.99	Combined oxidative phosphorylation deficiency 14	614946
FARS2	224.8	1	0.99	?Spastic paraplegia 77 autosomal recessive,	617046
FASTKD2	135.5	0.99	0.97	?Mitochondrial complex IV deficiency,	220110
FBXL4	227.1	1	1	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type),	615471
FDX1L	116.9	0.98	0.96	No OMIM phenotype	615471
FDX1L	116.9	0.98	0.96	Mitochondrial muscle myopathy (Spiegel -2014 Eur J Hum Genet 22,902)	615471
FH	175.4	0.92	0.88	Fumarase deficiency,	606812
FH	175.4	0.92	0.88	Leiomyomatosis and renal cell cancer,	150800
FOXRED1	145.1	1	0.99	Leigh syndrome due to mitochondrial complex I deficiency,	256000
FOXRED1	145.1	1	0.99	Mitochondrial complex I deficiency,	252010
FXN	86.1	0.86	0.76	Friedreich ataxia with retained reflexes,	229300
FXN	86.1	0.86	0.76	Friedreich ataxia,	229300
GARS	147.8	0.99	0.97	Charcot-Marie-Tooth disease, type 2D,	601472
GARS	147.8	0.99	0.97	Neuropathy, distal hereditary motor, type VA,	600794
GATM	174.8	1	0.99	Cerebral creatine deficiency syndrome 3	612718
GFER	91.8	0.97	0.9	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,	612718
GFER	91.8	0.97	0.9	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,	613076
GFM1	108.1	0.98	0.94	Combined oxidative phosphorylation deficiency 1	609060
GFM2	138.1	0.98	0.94	No OMIM phenotype	609060
GFM2	138.1	0.98	0.94	Leigh syndrome with arthrogryposis multiplex congenita (Fukumura -2015 J Hum Genet 60,509)	609060
GFM2	138.1	0.98	0.94	Wolcott-Rallison syndrome (Dixon-Salazar -2012 Sci Transl Med 4,138ra78)	609060
GFM2	138.1	0.98	0.94	{Atorvastatin sensitivity} (Callegari -2012 PLoS Genet 8,e	1002755)
GLRX5	102.2	0.93	0.86	Anemia, sideroblastic, 3 pyridoxine-refractory,	616860
GLRX5	102.2	0.93	0.86	Spasticity, childhood-onset, with hyperglycinemia,	616859
GLUD1	82.4	0.94	0.86	Hyperinsulinism-hyperammonemia syndrome,	606762
GTPBP3	135.8	0.99	0.98	Combined oxidative phosphorylation deficiency 23	616198
HARS2	196.9	0.99	0.99	?Perrault syndrome 2	614926
HCCS	123.6	1	0.98	Linear skin defects with multiple congenital anomalies 1	309801
HIBCH	76.2	0.91	0.72	3-hydroxyisobutryl-CoA hydrolase deficiency,	250620
HLCS	193.1	1	1	Holocarboxylase synthetase deficiency,	253270
HSD17B10	120.3	1	0.98	17-beta-hydroxysteroid dehydrogenase X deficiency,	300438
HSD17B10	120.3	1	0.98	?Mental retardation, X-linked syndromic 10	300220
HSPD1	92.7	0.96	0.89	Leukodystrophy, hypomyelinating, 4	612233
HSPD1	92.7	0.96	0.89	Spastic paraplegia 13 autosomal dominant,	605280
IARS2	147.5	1	0.99	?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal	605280
IARS2	147.5	1	0.99	dysplasia,	616007
IBA57	114.8	0.93	0.9	?Multiple mitochondrial dysfunctions syndrome 3	615330
IBA57	114.8	0.93	0.9	?Spastic paraplegia 74 autosomal recessive,	616451
ISCA2	89.5	0.98	0.94	Multiple mitochondrial dysfunctions syndrome 4	616370
ISCU	141	0.99	0.99	Myopathy with lactic acidosis, hereditary,	255125
KARS	141.2	1	0.99	Deafness, autosomal recessive 89	613916
KARS	141.2	1	0.99	?Charcot-Marie-Tooth disease, recessive intermediate, B,	613641
LACTB	140.7	0.96	0.85	No OMIM phenotype	613641
LARS2	147.8	1	1	Perrault syndrome 4	615300
LARS2	147.8	1	1	?Hydrops, lactic acidosis, and sideroblastic anemia,	617021
LIAS	159.6	0.99	0.95	Hyperglycinemia, lactic acidosis, and seizures,	614462
LIPT1	234.6	0.99	0.99	Lipoyltransferase 1 deficiency,	616299
LONP1	168.1	0.97	0.95	CODAS syndrome,	600373
LRPPRC	140.1	0.98	0.96	Leigh syndrome, French-Canadian type,	220111
LYRM4	62	0.64	0.59	?Combined oxidative phosphorylation deficiency 19	615595
LYRM7	53.9	0.83	0.65	Mitochondrial complex III deficiency, nuclear type 8	615838
MARS2	168.8	1	1	Spastic ataxia 3 autosomal recessive,	611390
MARS2	168.8	1	1	?Combined oxidative phosphorylation deficiency 25	616430
MCUR1	63.1	0.77	0.67	No OMIM phenotype	616430
MFF	107.2	0.92	0.88	No OMIM phenotype	616430
MFF	107.2	0.92	0.88	Mitochondrial ecephalomyopathy (Shamseldin -2012 J Med Genet 49,234)	616430
MFF	107.2	0.92	0.88	Leigh-like encephalopathy, optic atrophy and peripheral neuropathy (Koch -2016 J Med Genet 53 270)	616430
MFN2	159.7	1	1	Charcot-Marie-Tooth disease, type 2A2,	609260
MFN2	159.7	1	1	Hereditary motor and sensory neuropathy VIA,	601152
MGME1	196.8	1	1	Mitochondrial DNA depletion syndrome 11	615084
MICU1	140	0.95	0.91	Myopathy with extrapyramidal signs,	615673
MIEF2	120.6	1	0.99	No OMIM phenotype	615673
MPC1	131.6	1	0.99	Mitochondrial pyruvate carrier deficiency,	614741
MPV17	119.7	1	0.99	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type),	256810
MRP63	142.1	0.99	0.97	No OMIM phenotype	256810
MRPL12	125.9	0.99	0.95	No OMIM phenotype	256810
MRPL12	125.9	0.99	0.95	Growth retardation and neurological deterioration (Serre -2013 Biochim Biophys Acta 1832)	256810
MRPL3	69.9	0.89	0.78	Combined oxidative phosphorylation deficiency 9	614582
MRPL40	118	0.99	0.95	No OMIM phenotype	614582
MRPL44	119.9	0.99	0.96	?Combined oxidative phosphorylation deficiency 16	615395
MRPS16	154.4	1	0.99	Combined oxidative phosphorylation deficiency 2	610498
MRPS2	179.6	1	0.99	No OMIM phenotype	610498
MRPS22	150.8	0.95	0.91	Combined oxidative phosphorylation deficiency 5	611719
MRPS7	185.8	1	1	No OMIM phenotype	611719
MRPS7	185.8	1	1	Sensorineural deafness,progressive hepatic and renal failure and lactic acidaemia (Menezes -2015 Hum	611719
MRPS7	185.8	1	1	Mol Genet 24,2297)	611719
MRRF	216.4	1	0.98	No OMIM phenotype	611719
MRRF	216.4	1	0.98	?Complex I deficiency (Calvo -2010 Nat Genet 42,851)	611719
MTFMT	148.4	0.98	0.94	Combined oxidative phosphorylation deficiency 15	614947
MTO1	179.8	0.89	0.87	Combined oxidative phosphorylation deficiency 10	614702
MTPAP	133	0.98	0.93	Ataxia, spastic, 4	613672
NARS2	155.7	0.97	0.97	Combined oxidative phosphorylation deficiency 24	616239
NDUFA1	236.8	1	0.99	Mitochondrial complex I deficiency,	252010
NDUFA10	155.6	0.99	0.96	?Leigh syndrome,	256000
NDUFA11	95.1	0.99	0.94	Mitochondrial complex I deficiency,	252010
NDUFA12	166	1	1	Leigh syndrome due to mitochondrial complex 1 deficiency,	256000
NDUFA13	131.6	0.95	0.94	{Thyroid carcinoma, Hurthle cell},	607464
NDUFA2	144.1	1	1	Leigh syndrome due to mitochondrial complex I deficiency,	256000
NDUFA3	130.5	0.91	0.84	No OMIM phenotype	256000
NDUFA4	83.6	0.97	0.86	No OMIM phenotype	256000
NDUFA4	83.6	0.97	0.86	Cytochrome c oxidase deficiency (Pitceathly -2013 Cell Rep 3,1795)	256000
NDUFA4	83.6	0.97	0.86	?Complex I deficiency (Calvo -2010 Nat Genet 42,851)	256000
NDUFA5	83.2	0.87	0.66	No OMIM phenotype	256000
NDUFA6	276.9	1	1	No OMIM phenotype	256000
NDUFA6	276.9	1	1	?Complex I deficiency (Calvo -2010 Nat Genet 42,851)	256000
NDUFA7	117.6	1	0.98	No OMIM phenotype	256000
NDUFA8	151.6	1	0.99	No OMIM phenotype	256000
NDUFA8	151.6	1	0.99	Complex I deficiency (Bugiani -2004 Biochim Biophys Acta 1659,136)	256000
NDUFA9	156.5	0.99	0.95	Leigh syndrome due to mitochondrial complex I deficiency,	256000
NDUFAB1	129.9	0.98	0.94	No OMIM phenotype	256000
NDUFAF1	120.7	1	0.99	Mitochondrial complex I deficiency,	252010
NDUFAF2	59.8	0.81	0.67	Leigh syndrome,	256000
NDUFAF2	59.8	0.81	0.67	Mitochondrial complex I deficiency,	252010
NDUFAF3	122.5	1	0.99	Mitochondrial complex I deficiency,	252010
NDUFAF4	103.9	0.98	0.91	Mitochondrial complex I deficiency,	252010
NDUFAF5	104.7	0.97	0.94	Mitochondrial complex 1 deficiency,	252010
NDUFAF6	89.6	0.97	0.93	Leigh syndrome due to mitochondrial complex I deficiency,	256000
NDUFAF7	110.4	0.99	0.98	No OMIM phenotype	256000
NDUFAF7	110.4	0.99	0.98	?Complex I deficiency (Calvo -2010 Nat Genet 42,851)	256000
NDUFB1	33.1	0.73	0.53	No OMIM phenotype	256000
NDUFB1	33.1	0.73	0.53	?Complex I deficiency (Calvo -2012 Nat Genet 42,851)	256000
NDUFB10	146.4	0.99	0.97	No OMIM phenotype	256000
NDUFB11	101.4	0.94	0.84	Linear skin defects with multiple congenital anomalies 3	300952
NDUFB2	109.8	1	0.99	No OMIM phenotype	300952
NDUFB3	23.3	0.91	0.56	Mitochondrial complex I deficiency,	252010
NDUFB4	107.3	0.83	0.79	No OMIM phenotype	252010
NDUFB5	101.5	1	1	No OMIM phenotype	252010
NDUFB6	41.6	0.97	0.87	No OMIM phenotype	252010
NDUFB7	59.1	0.99	0.97	No OMIM phenotype	252010
NDUFB8	119	1	1	No OMIM phenotype	252010
NDUFB9	128.2	0.99	0.97	?Mitochondrial complex I deficiency,	252010
NDUFC1	95	0.99	0.97	No OMIM phenotype	252010
NDUFC2	42.3	0.96	0.82	No OMIM phenotype	252010
NDUFC2	42.3	0.96	0.82	{Insulin secrection,association with} (Olsson -2011 Eur J Endocrinol 164,765)	252010
NDUFS1	154.7	0.99	0.98	Mitochondrial complex I deficiency,	252010
NDUFS2	120.4	1	0.99	Mitochondrial complex I deficiency,	252010
NDUFS3	151.1	0.9	0.9	Leigh syndrome due to mitochondrial complex I deficiency,	256000
NDUFS3	151.1	0.9	0.9	Mitochondrial complex I deficiency,	252010
NDUFS4	175.1	1	0.98	Leigh syndrome,	256000
NDUFS4	175.1	1	0.98	Mitochondrial complex I deficiency,	252010
NDUFS5	184.5	1	1	No OMIM phenotype	252010
NDUFS5	184.5	1	1	?Complex I deficiency (Calvo -2010 Nat Genet 42,851)	252010
NDUFS6	138.1	0.99	0.99	Mitochondrial complex I deficiency,	252010
NDUFS7	132.1	0.99	0.99	Leigh syndrome,	256000
NDUFS8	145.6	0.99	0.99	Leigh syndrome due to mitochondrial complex I deficiency,	256000
NDUFV1	168.6	0.99	0.97	Mitochondrial complex I deficiency,	252010
NDUFV2	74.1	0.84	0.62	Mitochondrial complex I deficiency,	252010
NDUFV3	114	1	0.99	No OMIM phenotype	252010
NDUFV3	114	1	0.99	?Autistic features,motor problems and macrocephaly (Asadollahi -2014 J Med Genet 51,677)	252010
NDUFV3	114	1	0.99	?Complex I deficiency (Calvo -2010 Nat Genet 42,851)	252010
NFS1	82.1	0.87	0.83	No OMIM phenotype	252010
NFS1	82.1	0.87	0.83	Mitochondrial complex II/III deficienc,infantile (Farhan -2014 Mol Genet Genomic Med 2,73)	252010
NFU1	50.5	0.93	0.78	Multiple mitochondrial dysfunctions syndrome 1	605711
NUBPL	101.7	0.9	0.85	Mitochondrial complex I deficiency,	252010
OGDH	225.1	1	1	Alpha-ketoglutarate dehydrogenase deficiency,	203740
OPA1	135.3	0.98	0.91	Behr syndrome,	210000
OPA1	135.3	0.98	0.91	Optic atrophy 1	165500
OPA1	135.3	0.98	0.91	Optic atrophy plus syndrome,	125250
OPA1	135.3	0.98	0.91	?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type),	616896
OPA1	135.3	0.98	0.91	{Glaucoma, normal tension, susceptibility to},	606657
OPA3	122	0.99	0.96	3-methylglutaconic aciduria, type III,	258501
OPA3	122	0.99	0.96	Optic atrophy 3 with cataract,	165300
OXA1L	186.8	1	1	No OMIM phenotype	165300
PANK2	177.5	0.99	0.96	HARP syndrome,	607236
PANK2	177.5	0.99	0.96	Neurodegeneration with brain iron accumulation 1	234200
PARS2	241.4	1	1	No OMIM phenotype	234200
PARS2	241.4	1	1	Alpers syndrome (Sofou -2015 Mol Genet Genomic Med 3,59)	234200
PC	162.8	0.99	0.97	Pyruvate carboxylase deficiency,	266150
PDHA1	127.8	0.97	0.92	Pyruvate dehydrogenase E1-alpha deficiency,	312170
PDHB	144	0.98	0.95	Pyruvate dehydrogenase E1-beta deficiency,	614111
PDHX	136.1	0.98	0.96	Lacticacidemia due to PDX1 deficiency,	245349
PDK1	153.8	0.96	0.93	No OMIM phenotype	245349
PDK2	183.5	1	1	No OMIM phenotype	245349
PDK3	145.1	0.95	0.94	?Charcot-Marie-Tooth disease, X-linked dominant, 6	300905
PDK4	124.1	0.99	0.97	No OMIM phenotype	300905
PDK4	124.1	0.99	0.97	?Autism spectrum disorder (Matsunami -2014 Mol Autism 5,5)	300905
PDP1	209.6	1	1	Pyruvate dehydrogenase phosphatase deficiency,	608782
PDSS1	134.8	0.91	0.85	Coenzyme Q10 deficiency, primary, 2	614651
PDSS2	131.3	0.97	0.93	Coenzyme Q10 deficiency, primary, 3	614652
PET100	127.6	0.95	0.82	Mitochondrial complex IV deficiency,	220110
PET112	110.9	0.99	0.98	No OMIM phenotype	220110
PIGA	102.1	0.92	0.84	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868
PIGA	102.1	0.92	0.84	Paroxysmal nocturnal hemoglobinuria, somatic,	300818
PITRM1	133.2	0.97	0.95	Brunetti et al, EMBO Mol Med 2015	300818
PLA2G6	132.4	0.99	0.98	Infantile neuroaxonal dystrophy 1	256600
PLA2G6	132.4	0.99	0.98	Neurodegeneration with brain iron accumulation 2B,	610217
PLA2G6	132.4	0.99	0.98	Parkinson disease 14 autosomal recessive,	612953
PMPCA	146.2	0.98	0.95	Spinocerebellar ataxia, autosomal recessive 2	213200
PNPT1	57.7	0.92	0.79	Combined oxidative phosphorylation deficiency 13	614932
PNPT1	57.7	0.92	0.79	Deafness, autosomal recessive 70	614934
POLG	126.2	0.99	0.99	Mitochondrial DNA depletion syndrome 4A (Alpers type),	203700
POLG	126.2	0.99	0.99	Mitochondrial DNA depletion syndrome 4B (MNGIE type),	613662
POLG	126.2	0.99	0.99	Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE),	607459
POLG	126.2	0.99	0.99	Progressive external ophthalmoplegia, autosomal dominant 1	157640
POLG	126.2	0.99	0.99	Progressive external ophthalmoplegia, autosomal recessive 1	258450
POLG2	179.6	0.98	0.95	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	610131
PPA2	86.9	0.94	0.86	No OMIM phenotype	610131
PTRH2	315.8	1	1	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease,	616263
PUS1	150.8	0.99	0.96	Myopathy, lactic acidosis, and sideroblastic anemia 1	600462
PYCR1	105.4	0.99	0.94	Cutis laxa, autosomal recessive, type IIB,	612940
PYCR1	105.4	0.99	0.94	Cutis laxa, autosomal recessive, type IIIB,	614438
PYCR2	137.6	0.99	0.98	Leukodystrophy, hypomyelinating, 10	616420
RARS2	126.3	0.99	0.98	Pontocerebellar hypoplasia, type 6	611523
RMND1	142.9	0.99	0.96	Combined oxidative phosphorylation deficiency 11	614922
RNASEH1	111.1	0.97	0.93	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479
RRM2B	148.4	0.99	0.97	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy),	612075
RRM2B	148.4	0.99	0.97	Mitochondrial DNA depletion syndrome 8B (MNGIE type),	612075
RRM2B	148.4	0.99	0.97	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	613077
SARS2	116.3	0.96	0.95	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis,	613845
SCO1	130.6	0.97	0.93	Mitochondrial complex IV deficiency,	220110
SCO2	113.3	1	0.99	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	604377
SCO2	113.3	1	0.99	Myopia 6	608908
SDHA	117.4	0.84	0.78	Cardiomyopathy, dilated, 1GG,	613642
SDHA	117.4	0.84	0.78	Leigh syndrome,	256000
SDHA	117.4	0.84	0.78	Mitochondrial respiratory chain complex II deficiency,	252011
SDHA	117.4	0.84	0.78	Paragangliomas 5	614165
SDHAF1	48.8	0.99	0.98	Mitochondrial complex II deficiency,	252011
SDHB	144	0.99	0.99	Cowden syndrome 2	612359
SDHB	144	0.99	0.99	Gastrointestinal stromal tumor,	606764
SDHB	144	0.99	0.99	Paraganglioma and gastric stromal sarcoma,	606864
SDHB	144	0.99	0.99	Paragangliomas 4	115310
SDHB	144	0.99	0.99	Pheochromocytoma,	171300
SDHD	59.9	0.62	0.58	Carcinoid tumors, intestinal,	114900
SDHD	59.9	0.62	0.58	Cowden syndrome 3	615106
SDHD	59.9	0.62	0.58	Merkel cell carcinoma, somatic	615106
SDHD	59.9	0.62	0.58	Mitochondrial complex II deficiency,	252011
SDHD	59.9	0.62	0.58	Paraganglioma and gastric stromal sarcoma,	606864
SDHD	59.9	0.62	0.58	Paragangliomas 1 with or without deafness,	168000
SDHD	59.9	0.62	0.58	Pheochromocytoma,	171300
SERAC1	125.5	0.98	0.94	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome,	614739
SFXN4	155.3	0.99	0.98	Combined oxidative phosphorylation deficiency 18	615578
SLC19A2	128.5	0.99	0.98	Thiamine-responsive megaloblastic anemia syndrome,	249270
SLC19A3	191.3	1	1	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),	249270
SLC19A3	191.3	1	1	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),	607483
SLC25A1	84.7	0.97	0.9	Combined D-2- and L-2-hydroxyglutaric aciduria,	615182
SLC25A12	165	0.99	0.98	Epileptic encephalopathy, early infantile, 39	612949
SLC25A13	125.3	0.98	0.93	Citrullinemia, adult-onset type II,	603471
SLC25A13	125.3	0.98	0.93	Citrullinemia, type II, neonatal-onset,	605814
SLC25A19	81.4	0.99	0.95	Microcephaly, Amish type,	607196
SLC25A19	81.4	0.99	0.95	Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type),	613710
SLC25A22	117.1	0.99	0.96	Epileptic encephalopathy, early infantile, 3	609304
SLC25A3	157.9	0.99	0.95	Mitochondrial phosphate carrier deficiency,	610773
SLC25A32	132.1	1	0.99	?Exercise intolerance, riboflavin-responsive,	616839
SLC25A4	152.1	1	1	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type),	615418
SLC25A4	152.1	1	1	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	609283
SLC25A46	191.1	0.93	0.87	Neuropathy, hereditary motor and sensory, type VIB,	616505
SPATA5	146.6	0.99	0.99	Epilepsy, hearing loss, and mental retardation syndrome,	616577
SPG20	166.4	0.99	0.97	Troyer syndrome,	275900
SPG7	127.9	0.96	0.92	Spastic paraplegia 7 autosomal recessive,	607259
STXBP1	147.9	1	1	Epileptic encephalopathy, early infantile, 4	612164
SUCLA2	69.4	0.92	0.82	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria),	612164
SUCLA2	69.4	0.92	0.82	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria),	612073
SUCLG1	111.3	0.99	0.97	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),	612073
SUCLG1	111.3	0.99	0.97	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),	245400
SUCLG2	65.9	0.91	0.79	No OMIM phenotype	245400
SURF1	97	0.89	0.88	Charcot-Marie-Tooth disease, type 4K,	616684
SURF1	97	0.89	0.88	Leigh syndrome, due to COX IV deficiency,	256000
TACO1	104.3	0.96	0.92	Mitochondrial complex IV deficiency,	220110
TANGO2	161	1	0.99	Metabolic encephalomyopathic crises,recurrent,with rhabdomyolysis,cardiac arrhythmias and	220110
TANGO2	161	1	0.99	neurodegeneration,	616878
TARS2	103.6	0.99	0.96	?Combined oxidative phosphorylation deficiency 21	615918
TAZ	126.3	1	0.98	Barth syndrome,	302060
THG1L	158.2	1	0.99	No OMIM phenotype	302060
TIMM44	136.3	0.99	0.97	No OMIM phenotype	302060
TIMM44	136.3	0.99	0.97	Oncocytic thyroid carcinoma (Bonora -2006 Br J Cancer 95,1529)	302060
TIMM50	115.1	0.99	0.97	No OMIM phenotype	302060
TIMM50	115.1	0.99	0.97	?Epileptic encephalopathy with Lennox-Gastaut syndrome (Helbig -2016 Genet Med Epub,epub)	302060
TIMM8A	45.5	0.87	0.7	Jensen syndrome,	311150
TIMM8A	45.5	0.87	0.7	Mohr-Tranebjaerg syndrome,	304700
TIMMDC1	167.1	1	1	No OMIM phenotype	304700
TK2	109.9	0.92	0.87	Mitochondrial DNA depletion syndrome 2 (myopathic type),	609560
TMEM126A	118.9	0.95	0.83	Optic atrophy 7	612989
TMEM126B	100.8	0.99	0.97	Mitochondrial complex I deficiency,	252010
TMEM70	152.6	0.95	0.91	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	614052
TPK1	127.3	0.99	0.97	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type),	614458
TRIT1	149.2	1	0.99	No OMIM phenotype	614458
TRMT10C	123.5	0.99	0.96	Combined oxidative phosphorylation deficiency 30	616974
TRMT5	232.1	0.98	0.93	Combined oxidative phosphorylation deficiency 26	616539
TRMU	121.1	1	0.99	Liver failure, transient infantile,	613070
TRMU	121.1	1	0.99	{Deafness, mitochondrial, modifier of},	580000
TRNT1	111.2	0.95	0.9	Retinitis pigmentosa and erythrocytic microcytosis,	616959
TRNT1	111.2	0.95	0.9	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay,	616084
TSFM	148.4	1	0.99	Combined oxidative phosphorylation deficiency 3	610505
TTC19	106.2	0.9	0.81	Mitochondrial complex III deficiency, nuclear type 2	615157
TUFM	146.1	1	0.99	Combined oxidative phosphorylation deficiency 4	610678
TXN2	100.5	1	1	?Combined oxidative phosphorylation deficiency 29	616811
TYMP	96.7	0.96	0.88	Mitochondrial DNA depletion syndrome 1 (MNGIE type),	603041
UQCC1	114.2	1	0.99	No OMIM phenotype	603041
UQCC2	103.8	1	0.99	?Mitochondrial complex III deficiency, nuclear type 7	615824
UQCR10	186.8	1	1	No OMIM phenotype	615824
UQCR11	199.9	1	1	No OMIM phenotype	615824
UQCRB	121.7	0.98	0.95	Mitochondrial complex III deficiency, nuclear type 3	615158
UQCRC1	143.6	0.99	0.99	No OMIM phenotype	615158
UQCRC2	154.8	0.99	0.99	Mitochondrial complex III deficiency, nuclear type 5	615160
UQCRFS1	148.5	0.88	0.83	No OMIM phenotype	615160
UQCRH	130	0.99	0.98	No OMIM phenotype	615160
UQCRQ	162.5	1	0.99	Mitochondrial complex III deficiency, nuclear type 4	615159
VARS2	17.7	0.62	0.35	Combined oxidative phosphorylation deficiency 20	615917
YARS2	186.8	0.99	0.98	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561

Solicita el test

qGenEx® EM. Panell d’Enfermetats Mitocondrials

Els panells qGenEx® consisteixen en anàlisis d’exoma dirigides, que permeten restringir l’estudi a un grup de gens concret segons l’especialitat o sospita clínica concreta, al mateix temps que generen dades de la totalitat de l’exoma, per si en primera instància no s’identifica el gen responsable, ja tinguem les dades apunt per a noves anàlisis presents o futures.

El servei qGenEx® EM analitza 250 gens associats a malalties mitocondrials, per mitjà de la seqüenciació de l’exoma complet amb NGS, i analitzant a més a més el genoma mitocondrial de manera específica.

Fes servir el buscador per trobar el gen o grup de gens relacionats amb la patologia que t’interessa i que formen part del panell:

gene
ATP6
ATP8
COX1
COX2
COX3
CYTB
ND1
ND2
ND3
ND4
ND4L
ND5
ND6
RNR1
tRNA-Ala
tRNA-Cys
tRNA-Asp
tRNA-Glu
tRNA-Phe
tRNA-Gly
tRNA-His
tRNA-Ile
tRNA-Lys
tRNA-Leu1
tRNA-Leu2
tRNA-Met
tRNA-Asn
tRNA-Pro
tRNA-Gln
tRNA-Arg
tRNA-Ser1
tRNA-Ser2
tRNA-Val
tRNA-Trp
tRNA-Tyr
AARS2
ABAT
ABCB7
ACAD9
ACO2
AFG3L2
AGK
AIFM1
ANO10
COA8
APTX
ATAD3A
ATP5F1D
ATPAF2
BCS1L
BOLA3
BTD
C12orf65
MICOS13
C1QBP
CA5A
CARS2
CHCHD10
CLPB
CLPP
COA6
COA7
COQ2
COQ4
COQ6
COQ7
COQ8A
COQ8B
COQ9
COX10
COX14
COX15
COX20
COX6A1
COX6B1
COX7B
CYC1
DARS2
DGUOK
DLAT
DLD
DMPK
DNA2
DNAJC19
DNM1L
DNM2
EARS2
ECHS1
ELAC2
ETFDH
ETHE1
FARS2
FASTKD2
FBXL4
FDX2
FDXR
FH
FLAD1
FOXRED1
GARS1
GDAP1
GFER
GFM1
GFM2
GLRX5
GTPBP3
HARS2
HCCS
HIBCH
HLCS
HSD17B10
HSPD1
HTRA2
IARS2
IBA57
ISCA1
ISCA2
ISCU
KARS1
LARS2
LIAS
LIPT1
LIPT2
LONP1
LRPPRC
LYRM7
MARS2
MDH2
MECR
MFF
MFN2
MGME1
MICU1
MIPEP
MPC1
MPV17
MRPL3
MRPL44
MRPS2
MRPS22
MRPS34
MSTO1
MTFMT
MTO1
MTPAP
NADK2
NARS2
NAXE
NDUFA1
NDUFA10
NDUFA11
NDUFA2
NDUFA4
NDUFA6
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFAF8
NDUFB11
NDUFB3
NDUFB8
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NFU1
NUBPL
OPA1
OPA3
PARS2
PC
PDHA1
PDHB
PDHX
PDP1
PDSS1
PDSS2
PET100
PMPCA
PMPCB
PNPLA8
PNPT1
POLG
POLG2
PPA2
PUS1
QRSL1
RARS2
RMND1
RNASEH1
RRM2B
RTN4IP1
SACS
SARS2
SCO1
SCO2
SDHA
SDHAF1
SDHD
SERAC1
SFXN4
SLC19A2
SLC19A3
SLC25A1
SLC25A12
SLC25A19
SLC25A26
SLC25A3
SLC25A32
SLC25A38
SLC25A4
SLC25A42
SLC25A46
SPG7
SUCLA2
SUCLG1
SURF1
TACO1
TAZ
TIMM50
TIMM8A
TK2
TMEM126B
TMEM70
TOP3A
TPK1
TRIT1
TRMT10C
TRMT5
TRMU
TRNT1
TSFM
TTC19
TUFM
TWNK
TYMP
UQCC2
UQCRB
VARS2
WARS2
YARS2

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Necessitem la informació del metge sol·licitant, les dades del pacient (especialment l’identificador de la mostra, la data de naixement i el sexe), i per descomptat seleccionar el test que se sol·licita.

La resta de camps també són importants, així que si disposes de la informació, ens serà de gran utilitat.

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Una vegada emplenat a l’ordinador, s’ha d’imprimir i signar per part del metge sol·licitant.

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És important recordar que les mostres han d’anar identificades amb el mateix identificador o nom indicat al Full de Sol·licitud.

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Embalar la mostra biològica de manera adequada i adjuntar el Full de Sol·licitud.

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Requisits de les mostres biològiques

DNA: >5ug, a una concentració mínima de 50ng/uL, i de bona qualitat (ratio 260/280 >1.8).

Sang en EDTA: 1 tub de 3-5mL (nens, mínim 1mL de sang).

Sang en paper: un mínim de 10 spots en targeta Guthrie o paper de filtre.

Alternativament es pot demanar a qGenomics un kit de recollida de saliva o de cèl·lules bucals.

Preparació per a l'enviament

Les mostres biològiques com la sang, la saliva o altres fluïds corporals són considerades mostres biològiques de categoria B, mentre que l’ADN es pot considerar un “Especimen humà exent”. Pots llegir aquí com han d’anar acondicionades.

La sang recollida en un tub d’EDTA, l’ADN, la saliva recollida en els contenidors especials que proporcionem, i la sang en paper, són estables a temperatura ambient durant 3 o 4 dies. Les mostres poden enviar-se, convenientment protegides, per correu ordinari o missatger.

qGenEx® EM. Panell d’Enfermetats Mitocondrials

qGenEx® EM. Panell d’Enfermetats Mitocondrials

Fes servir el buscador per trobar el gen o grup de gens relacionats amb la patologia que t’interessa i que formen part del panell:

Una anàlisi per a cada metge especialista i, al mateix temps, per a tots!

1) Emplenar la sol·licitud del test.

2) Imprimir el full de sol·licitud.

3) Obtenir la mostra biològica.

4) Preparar la mostra de manera adequada per al seu enviament.

5) Enviar la mostra al laboratori o demanar-ne la recollida trucant al 932 301 270

Truca’ns al 932 301 270 quan ho tinguis tot preparat i passarem a recollir les teves mostres.

qGenEx® AC. Panell d’Anomalies Esquelètiques i Cranials

qGenEx® CA. Panell Cardiología

qGenEx® DI. Panell Discapacitat Intel·lectual

qGenEx® EM. Panell d’Enfermetats Mitocondrials

qGenEx® EP. Panel d’Epilèpsia

qGenEx® EV. Panell patologies de la Visió

qGenEx® HH. Panell d’Hipogonadisme hipogonadotròfic

qGenEx® IP. Immunodeficiències Primàries

qGenEx® MEN. Panel Mendelioma

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qGenEx® NE. Panell Neuropaties

qGenEx® PC. Panell Ciliopaties

qGenEx® SC. Panell Sordeses

qGenEx® TDS. Panell Trastorns del Desenvolupament Sexual

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qGenEx® THT. Panell Trastorns Hematològics

qGenEx® TM. Panell Trastorns del Metabolisme

qGenEx® TMV. Panell Trastorns del Moviment

qGenEx® TR. Panel Malalties Renals

qGenEx® EP. Panell d’Enfermetats de la Pell

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