qGenEx® TMV. Panell Trastorns del Moviment

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
ABCB7	156	0.99	0.97	Anemia, sideroblastic, with ataxia,	301310
ABCD1	96	0.77	0.68	Adrenoleukodystrophy,	300100
ABCD1	96	0.77	0.68	Adrenomyeloneuropathy, adult,	300100
ABHD12	114.9	0.97	0.91	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract,	612674
ACTB	134.1	0.98	0.93	Baraitser-Winter syndrome 1	243310
ACTB	134.1	0.98	0.93	?Dystonia, juvenile-onset,	607371
ADAR	131.7	1	0.99	Aicardi-Goutieres syndrome 6	615010
ADAR	131.7	1	0.99	Dyschromatosis symmetrica hereditaria,	127400
ADCK3	146	0.99	0.98	Coenzyme Q10 deficiency, primary, 4	612016
ADCY5	144.8	0.93	0.91	Dyskinesia, familial, with facial myokymia,	606703
AFG3L2	126.4	0.92	0.85	Ataxia, spastic, 5 autosomal recessive,	614487
AFG3L2	126.4	0.92	0.85	Spinocerebellar ataxia 28	610246
ALDH18A1	143	1	0.99	Cutis laxa, autosomal dominant 3	616603
ALDH18A1	143	1	0.99	Cutis laxa, autosomal recessive, type IIIA,	219150
ALDH18A1	143	1	0.99	Spastic paraplegia 9A, autosomal dominant,	601162
ALDH18A1	143	1	0.99	Spastic paraplegia 9B, autosomal recessive,	616586
ALDH3A2	157.4	1	0.99	Sjogren-Larsson syndrome,	270200
ALS2	184.7	0.99	0.99	Amyotrophic lateral sclerosis 2 juvenile,	205100
ALS2	184.7	0.99	0.99	Primary lateral sclerosis, juvenile,	606353
ALS2	184.7	0.99	0.99	Spastic paralysis, infantile onset ascending,	607225
ANO10	126.6	0.99	0.96	Spinocerebellar ataxia, autosomal recessive 10	613728
ANO3	175	0.99	0.97	Dystonia 24	615034
AP4B1	166	1	0.99	Spastic paraplegia 47 autosomal recessive,	614066
AP4E1	117.3	0.99	0.96	Spastic paraplegia 51 autosomal recessive,	613744
AP4E1	117.3	0.99	0.96	Stuttering, familial persistent, 1	184450
AP4M1	125.9	0.99	0.97	Spastic paraplegia 50 autosomal recessive,	612936
AP4S1	78.3	0.74	0.68	Spastic paraplegia 52 autosomal recessive,	614067
AP5Z1	95	0.99	0.98	Spastic paraplegia 48 autosomal recessive,	613647
APTX	136.6	0.93	0.9	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia,	208920
ARG1	172.1	1	1	Argininemia,	207800
ARSA	111.5	1	0.99	Metachromatic leukodystrophy,	250100
ARX	39.1	0.82	0.7	Epileptic encephalopathy, early infantile, 1	308350
ARX	39.1	0.82	0.7	Hydranencephaly with abnormal genitalia,	300215
ARX	39.1	0.82	0.7	Lissencephaly, X-linked 2	300215
ARX	39.1	0.82	0.7	Mental retardation, X-linked 29 and others,	300419
ARX	39.1	0.82	0.7	Partington syndrome,	309510
ARX	39.1	0.82	0.7	Proud syndrome,	300004
ASPA	151.7	0.99	0.92	Canavan disease,	271900
ATCAY	166.6	1	0.99	Ataxia, cerebellar, Cayman type,	601238
ATL1	195.9	0.98	0.95	Neuropathy, hereditary sensory, type ID,	613708
ATL1	195.9	0.98	0.95	Spastic paraplegia 3A, autosomal dominant,	182600
ATM	124.3	0.98	0.93	Ataxia-telangiectasia,	208900
ATM	124.3	0.98	0.93	Lymphoma, B-cell non-Hodgkin, somatic	208900
ATM	124.3	0.98	0.93	Lymphoma, mantle cell, somatic	208900
ATM	124.3	0.98	0.93	T-cell prolymphocytic leukemia, somatic	208900
ATM	124.3	0.98	0.93	{Breast cancer, susceptibility to},	114480
ATP13A2	129	0.99	0.98	Kufor-Rakeb syndrome,	606693
ATP13A2	129	0.99	0.98	?Ceroid lipofuscinosis, neuronal, 12	606693
ATP1A2	209.6	1	1	Alternating hemiplegia of childhood,	104290
ATP1A2	209.6	1	1	Migraine, familial basilar,	602481
ATP1A2	209.6	1	1	Migraine, familial hemiplegic, 2	602481
ATP1A3	205.7	1	1	Alternating hemiplegia of childhood 2	614820
ATP1A3	205.7	1	1	CAPOS syndrome,	601338
ATP1A3	205.7	1	1	Dystonia-12,	128235
ATP2B3	161.5	0.99	0.98	?Spinocerebellar ataxia, X-linked 1	302500
ATP7B	173	0.99	0.99	Wilson disease,	277900
B4GALNT1	163.9	0.99	0.96	Spastic paraplegia 26 autosomal recessive,	609195
BCAP31	74.1	0.93	0.81	Deafness, dystonia, and cerebral hypomyelination,	300475
BCKDHA	186.9	0.99	0.99	Maple syrup urine disease, type Ia,	248600
BCKDHB	124.4	0.89	0.81	Maple syrup urine disease, type Ib,	248600
BSCL2	126.4	1	0.99	Encephalopathy, progressive, with or without lipodystrophy,	615924
BSCL2	126.4	1	0.99	Lipodystrophy, congenital generalized, type 2	269700
BSCL2	126.4	1	0.99	Neuropathy, distal hereditary motor, type VA,	600794
BSCL2	126.4	1	0.99	Silver spastic paraplegia syndrome,	270685
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
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
CA8	120.5	0.95	0.9	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3	613227
CACNA1A	105.6	0.95	0.91	Episodic ataxia, type 2	108500
CACNA1A	105.6	0.95	0.91	Migraine, familial hemiplegic, 1	141500
CACNA1A	105.6	0.95	0.91	Migraine, familial hemiplegic, 1 with progressive cerebellar ataxia,	141500
CACNA1A	105.6	0.95	0.91	Spinocerebellar ataxia 6	183086
CACNA1G	147.8	0.99	0.98	Spinocerebellar ataxia 42	616795
CACNB4	126.8	0.98	0.97	Episodic ataxia, type 5	613855
CACNB4	126.8	0.98	0.97	{Epilepsy, idiopathic generalized, susceptibility to, 9},	607682
CACNB4	126.8	0.98	0.97	{Epilepsy, juvenile myoclonic, susceptibility to, 6},	607682
CAMTA1	193.2	0.99	0.99	Cerebellar ataxia, nonprogressive, with mental retardation,	614756
CAPN1	169.4	1	1	Spastic paraplegia 76 autosomal recessive,	616907
CCT5	166	1	0.99	Neuropathy, hereditary sensory, with spastic paraplegia,	256840
CIZ1	176.8	0.99	0.97	No OMIM phenotype	256840
CIZ1	176.8	0.99	0.97	Cervical dystonia, primary (Xiao -2012 Ann Neurol 71 458)	256840
COASY	168	1	1	Neurodegeneration with brain iron accumulation 6	615643
COL4A1	101.8	0.98	0.93	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps,	611773
COL4A1	101.8	0.98	0.93	Brain small vessel disease with or without ocular anomalies,	607595
COL4A1	101.8	0.98	0.93	Porencephaly 1	175780
COL4A1	101.8	0.98	0.93	?Retinal arteries, tortuosity of,	180000
COL4A1	101.8	0.98	0.93	{Hemorrhage, intracerebral, susceptibility to},	614519
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
COQ9	105.7	0.99	0.98	Coenzyme Q10 deficiency, primary, 5	614654
COX20	52.3	0.9	0.73	Mitochondrial complex IV deficiency,	220110
CP	141	0.94	0.9	Cerebellar ataxia,	604290
CP	141	0.94	0.9	Hemosiderosis, systemic, due to aceruloplasminemia,	604290
CP	141	0.94	0.9	[Hypoceruloplasminemia, hereditary],	604290
CSF1R	144.4	0.99	0.98	Leukoencephalopathy, diffuse hereditary, with spheroids,	221820
CSTB	120.6	1	0.99	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg),	254800
CYP27A1	188.7	0.97	0.95	Cerebrotendinous xanthomatosis,	213700
CYP2U1	140.9	0.95	0.92	Spastic paraplegia 56 autosomal recessive,	615030
CYP7B1	106.9	0.95	0.9	Bile acid synthesis defect, congenital, 3	613812
CYP7B1	106.9	0.95	0.9	Spastic paraplegia 5A, autosomal recessive,	270800
DBT	122.5	0.97	0.92	Maple syrup urine disease, type II,	248600
DCAF17	110.1	0.98	0.92	Woodhouse-Sakati syndrome,	241080
DCTN1	143.1	0.99	0.99	Neuropathy, distal hereditary motor, type VIIB,	607641
DCTN1	143.1	0.99	0.99	Perry syndrome,	168605
DCTN1	143.1	0.99	0.99	{Amyotrophic lateral sclerosis, susceptibility to},	105400
DDC	118.6	0.99	0.96	Aromatic L-amino acid decarboxylase deficiency,	608643
DDHD1	166.1	0.96	0.94	Spastic paraplegia 28 autosomal recessive,	609340
DDHD2	184.8	0.99	0.96	Spastic paraplegia 54 autosomal recessive,	615033
DLAT	102.4	0.99	0.95	Pyruvate dehydrogenase E2 deficiency,	245348
DLD	142	0.99	0.97	Dihydrolipoamide dehydrogenase deficiency,	246900
DNMT1	129	0.99	0.98	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,	604121
DNMT1	129	0.99	0.98	Neuropathy, hereditary sensory, type IE,	614116
EIF2B1	156.3	1	0.99	Leukoencephalopathy with vanishing white matter,	603896
EIF2B2	157.2	1	0.99	Leukoencephalopathy with vanishing white matter,	603896
EIF2B2	157.2	1	0.99	Ovarioleukodystrophy,	603896
EIF2B3	180	1	1	Leukoencephalopathy with vanishing white matter,	603896
EIF2B4	161.8	0.99	0.99	Leukoencephaly with vanishing white matter,	603896
EIF2B4	161.8	0.99	0.99	Ovarioleukodystrophy,	603896
EIF2B5	133.8	0.99	0.98	Leukoencephalopathy with vanishing white matter,	603896
EIF2B5	133.8	0.99	0.98	Ovarioleukodystrophy,	603896
EIF4G1	144.4	0.99	0.99	{Parkinson disease 18},	614251
ELOVL5	129.5	1	0.99	Spinocerebellar ataxia 38	615957
ERLIN2	167.7	0.99	0.99	Spastic paraplegia 18 autosomal recessive,	611225
FA2H	108.9	0.94	0.88	Spastic paraplegia 35 autosomal recessive,	612319
FAR1	91.8	0.96	0.91	Peroxisomal fatty acyl-CoA reductase 1 disorder,	616154
FBXO7	237.5	0.99	0.97	Parkinson disease 15 autosomal recessive,	260300
FGF14	219	0.99	0.98	Spinocerebellar ataxia 27	609307
FLVCR1	149.3	0.99	0.96	Ataxia, posterior column, with retinitis pigmentosa,	609033
FOLR1	166.3	1	1	Neurodegeneration due to cerebral folate transport deficiency,	613068
FRMD7	144.2	0.99	0.98	Nystagmus 1 congenital, X-linked,	310700
FRMD7	144.2	0.99	0.98	Nystagmus, infantile periodic alternating, X-linked,	310700
FTL	131.3	0.99	0.92	Hyperferritinemia-cataract syndrome,	600886
FTL	131.3	0.99	0.92	L-ferritin deficiency, dominant and recessive,	615604
FTL	131.3	0.99	0.92	Neurodegeneration with brain iron accumulation 3	606159
GALC	112.3	0.97	0.93	Krabbe disease,	245200
GAN	210.8	0.99	0.99	Giant axonal neuropathy-1,	256850
GBA	237.3	1	1	Gaucher disease, perinatal lethal,	608013
GBA	237.3	1	1	Gaucher disease, type I,	230800
GBA	237.3	1	1	Gaucher disease, type II,	230900
GBA	237.3	1	1	Gaucher disease, type III,	231000
GBA	237.3	1	1	Gaucher disease, type IIIC,	231005
GBA	237.3	1	1	{Lewy body dementia, susceptibility to},	127750
GBA	237.3	1	1	{Parkinson disease, late-onset, susceptibility to},	168600
GBA2	187.3	1	0.99	Spastic paraplegia 46 autosomal recessive,	614409
GCDH	148.6	0.93	0.91	Glutaricaciduria, type I,	231670
GCH1	91.2	0.95	0.86	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia,	128230
GCH1	91.2	0.95	0.86	Hyperphenylalaninemia, BH4-deficient, B,	233910
GFAP	110.3	0.99	0.98	Alexander disease,	203450
GJC2	52.2	0.85	0.68	Leukodystrophy, hypomyelinating, 2	608804
GJC2	52.2	0.85	0.68	Lymphedema, hereditary, IC,	613480
GJC2	52.2	0.85	0.68	Spastic paraplegia 44 autosomal recessive,	613206
GLB1	93.9	0.99	0.95	GM1-gangliosidosis, type I,	230500
GLB1	93.9	0.99	0.95	GM1-gangliosidosis, type II,	230600
GLB1	93.9	0.99	0.95	GM1-gangliosidosis, type III,	230650
GLB1	93.9	0.99	0.95	Mucopolysaccharidosis type IVB (Morquio),	253010
GNAL	153.7	0.95	0.92	Dystonia 25	615073
GOSR2	143.1	0.97	0.95	Epilepsy, progressive myoclonic 6	614018
GPR143	77.7	0.91	0.85	Nystagmus 6 congenital, X-linked,	300814
GPR143	77.7	0.91	0.85	Ocular albinism, type I, Nettleship-Falls type,	300500
GPR56	173.8	1	1	Polymicrogyria, bilateral frontoparietal,	606854
GPR56	173.8	1	1	Polymicrogyria, bilateral perisylvian,	615752
GRID2	195.3	1	0.99	Spinocerebellar ataxia, autosomal recessive 18	616204
GRM1	194.5	1	0.99	Spinocerebellar ataxia, autosomal recessive 13	614831
HEXB	152.6	0.97	0.91	Sandhoff disease, infantile, juvenile, and adult forms,	268800
HPRT1	75.3	0.94	0.84	HPRT-related gout,	300323
HPRT1	75.3	0.94	0.84	Lesch-Nyhan syndrome,	300322
HSPD1	92.7	0.96	0.89	Leukodystrophy, hypomyelinating, 4	612233
HSPD1	92.7	0.96	0.89	Spastic paraplegia 13 autosomal dominant,	605280
ITPR1	176.7	1	0.99	Gillespie syndrome,	206700
ITPR1	176.7	1	0.99	Spinocerebellar ataxia 15	606658
ITPR1	176.7	1	0.99	Spinocerebellar ataxia 29 congenital nonprogressive,	117360
KCNA1	178.7	1	0.99	Episodic ataxia/myokymia syndrome,	160120
KCNC1	213.9	1	0.99	Epilepsy, progressive myoclonic 7	616187
KCNC3	155.3	0.71	0.58	Spinocerebellar ataxia 13	605259
KCND3	207.2	1	0.98	Brugada syndrome 9	616399
KCND3	207.2	1	0.98	Spinocerebellar ataxia 19	607346
KCNJ10	229	1	0.99	Enlarged vestibular aqueduct, digenic,	600791
KCNJ10	229	1	0.99	SESAME syndrome,	612780
KCNJ6	196.9	1	0.99	Keppen-Lubinsky syndrome,	614098
KCNMA1	158.7	1	0.99	Generalized epilepsy and paroxysmal dyskinesia,	609446
KCTD7	144.9	0.93	0.92	Epilepsy, progressive myoclonic 3 with or without intracellular inclusions,	611726
KIAA0196	159.1	0.98	0.96	Ritscher-Schinzel syndrome 1	220210
KIAA0196	159.1	0.98	0.96	Spastic paraplegia 8 autosomal dominant,	603563
KIAA0226	116.4	0.98	0.97	?Spinocerebellar ataxia, autosomal recessive 15	615705
KIAA2022	183	1	0.99	Mental retardation, X-linked 98	300912
KIF1A	134.8	0.99	0.97	Mental retardation, autosomal dominant 9	614255
KIF1A	134.8	0.99	0.97	Neuropathy, hereditary sensory, type IIC,	614213
KIF1A	134.8	0.99	0.97	Spastic paraplegia 30 autosomal recessive,	610357
KIF1C	126.4	0.99	0.99	Spastic ataxia 2 autosomal recessive,	611302
KIF5A	147.5	1	0.99	Spastic paraplegia 10 autosomal dominant,	604187
KMT2B	135.2	0.94	0.91	No OMIM phenotype	604187
KMT2B	135.2	0.94	0.91	Kleefstra-like syndrome (Agha -2014 PLoS One 9,e	112687)
L1CAM	157.7	0.99	0.98	Corpus callosum, partial agenesis of,	304100
L1CAM	157.7	0.99	0.98	CRASH syndrome,	303350
L1CAM	157.7	0.99	0.98	Hydrocephalus due to aqueductal stenosis,	307000
L1CAM	157.7	0.99	0.98	Hydrocephalus with congenital idiopathic intestinal pseudoobstruction,	307000
L1CAM	157.7	0.99	0.98	Hydrocephalus with Hirschsprung disease,	307000
L1CAM	157.7	0.99	0.98	MASA syndrome,	303350
MARS2	168.8	1	1	Spastic ataxia 3 autosomal recessive,	611390
MARS2	168.8	1	1	?Combined oxidative phosphorylation deficiency 25	616430
MECP2	100	0.99	0.94	Encephalopathy, neonatal severe,	300673
MECP2	100	0.99	0.94	Mental retardation, X-linked syndromic, Lubs type,	300260
MECP2	100	0.99	0.94	Mental retardation, X-linked, syndromic 13	300055
MECP2	100	0.99	0.94	Rett syndrome,	312750
MECP2	100	0.99	0.94	Rett syndrome, atypical,	312750
MECP2	100	0.99	0.94	Rett syndrome, preserved speech variant,	312750
MECP2	100	0.99	0.94	{Autism susceptibility, X-linked 3},	300496
MICU1	140	0.95	0.91	Myopathy with extrapyramidal signs,	615673
MMADHC	82.8	0.87	0.74	Homocystinuria, cblD type, variant 1	277410
MMADHC	82.8	0.87	0.74	Methylmalonic aciduria and homocystinuria, cblD type,	277410
MMADHC	82.8	0.87	0.74	Methylmalonic aciduria, cblD type, variant 2	277410
MRE11A	57.6	0.95	0.85	Ataxia-telangiectasia-like disorder,	604391
MTHFR	153.2	1	0.99	Homocystinuria due to MTHFR deficiency,	236250
MTHFR	153.2	1	0.99	{Neural tube defects, susceptibility to},	601634
MTHFR	153.2	1	0.99	{Schizophrenia, susceptibility to},	181500
MTHFR	153.2	1	0.99	{Thromboembolism, susceptibility to},	188050
MTHFR	153.2	1	0.99	{Vascular disease, susceptibility to}	188050
MTPAP	133	0.98	0.93	Ataxia, spastic, 4	613672
MTTP	155.8	0.99	0.98	Abetalipoproteinemia,	200100
MTTP	155.8	0.99	0.98	{Metabolic syndrome, protection against},	605552
NIPA1	173.4	0.99	0.99	Spastic paraplegia 6 autosomal dominant,	600363
NKX2-1	55.6	0.98	0.93	Chorea, hereditary benign,	118700
NKX2-1	55.6	0.98	0.93	Choreoathetosis, hypothyroidism, and neonatal respiratory distress,	610978
NKX2-1	55.6	0.98	0.93	{Thyroid cancer, monmedullary, 1},	188550
NOL3	95	0.94	0.87	Myoclonus, familial cortical,	614937
NPC1	162.1	0.99	0.98	Niemann-Pick disease, type C1,	257220
NPC1	162.1	0.99	0.98	Niemann-Pick disease, type D,	257220
NPC1	162.1	0.99	0.98	{Nasopharyngeal carcinoma 1}	257220
NPC2	144	1	0.99	Niemann-pick disease, type C2,	607625
NUP62	126.9	0.99	0.99	Striatonigral degeneration, infantile,	271930
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
PANK2	177.5	0.99	0.96	HARP syndrome,	607236
PANK2	177.5	0.99	0.96	Neurodegeneration with brain iron accumulation 1	234200
PAX6	156.1	1	0.99	Aniridia,	106210
PAX6	156.1	1	0.99	Cataract with late-onset corneal dystrophy,	106210
PAX6	156.1	1	0.99	Coloboma of optic nerve,	120430
PAX6	156.1	1	0.99	Coloboma, ocular,	120200
PAX6	156.1	1	0.99	Foveal hypoplasia 1	136520
PAX6	156.1	1	0.99	Keratitis,	148190
PAX6	156.1	1	0.99	Optic nerve hypoplasia,	165550
PAX6	156.1	1	0.99	Peters anomaly,	604229
PAX6	156.1	1	0.99	?Morning glory disc anomaly,	120430
PDE10A	160.6	0.99	0.99	Dyskinesia,limb and orofacial,infantile-onset,	616921
PDE10A	160.6	0.99	0.99	Striatal degeneration,autosomal dominant,	616922
PDE8B	121.8	0.99	0.98	Pigmented nodular adrenocortical disease, primary, 3	614190
PDE8B	121.8	0.99	0.98	Striatal degeneration, autosomal dominant,	609161
PDGFB	107.8	1	0.99	Basal ganglia calcification, idiopathic, 5	615483
PDGFB	107.8	1	0.99	Dermatofibrosarcoma protuberans,	607907
PDGFB	107.8	1	0.99	Meningioma, SIS-related,	607174
PDGFRB	166.4	0.99	0.97	Basal ganglia calcification, idiopathic, 4	615007
PDGFRB	166.4	0.99	0.97	Kosaki overgrowth syndrome,	616592
PDGFRB	166.4	0.99	0.97	Myeloproliferative disorder with eosinophilia,	131440
PDGFRB	166.4	0.99	0.97	Myofibromatosis, infantile, 1	228550
PDGFRB	166.4	0.99	0.97	Premature aging syndrome, Penttinen type,	601812
PDHA1	127.8	0.97	0.92	Pyruvate dehydrogenase E1-alpha deficiency,	312170
PDHX	136.1	0.98	0.96	Lacticacidemia due to PDX1 deficiency,	245349
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
PDYN	121.7	1	1	Spinocerebellar ataxia 23	610245
PEX10	118.3	0.97	0.93	Peroxisome biogenesis disorder 6A (Zellweger),	614870
PEX10	118.3	0.97	0.93	Peroxisome biogenesis disorder 6B,	614871
PEX7	138.5	0.89	0.85	Peroxisome biogenesis disorder 9B,	614879
PEX7	138.5	0.89	0.85	Rhizomelic chondrodysplasia punctata, type 1	215100
PHYH	86.5	0.98	0.92	Refsum disease,	266500
PIK3R5	123.1	1	0.99	Ataxia-oculomotor apraxia 3	615217
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
PLP1	162.1	1	0.99	Pelizaeus-Merzbacher disease,	312080
PLP1	162.1	1	0.99	Spastic paraplegia 2 X-linked,	312920
PMM2	178.4	0.99	0.99	Congenital disorder of glycosylation, type Ia,	212065
PNKD	107.7	0.99	0.98	Paroxysmal nonkinesigenic dyskinesia,	118800
PNKP	98.4	0.99	0.97	Ataxia-oculomotor apraxia 4	616267
PNKP	98.4	0.99	0.97	Microcephaly, seizures, and developmental delay,	613402
PNPLA6	140.9	0.99	0.98	Boucher-Neuhauser syndrome,	215470
PNPLA6	140.9	0.99	0.98	Oliver-McFarlane syndrome,	275400
PNPLA6	140.9	0.99	0.98	Spastic paraplegia 39 autosomal recessive,	612020
PNPLA6	140.9	0.99	0.98	?Laurence-Moon syndrome,	245800
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
POLR3A	162.2	1	0.99	Leukodystrophy, hypomyelinating, 7 with or without oligodontia and/or hypogonadotropic	258450
POLR3A	162.2	1	0.99	hypogonadism,	607694
POLR3B	168.9	0.99	0.98	Leukodystrophy, hypomyelinating, 8 with or without oligodontia and/or hypogonadotropic	607694
POLR3B	168.9	0.99	0.98	hypogonadism,	614381
PRKCG	127.5	0.97	0.93	Spinocerebellar ataxia 14	605361
PRKRA	161.3	0.99	0.99	Dystonia 16	612067
PRRT2	80.7	0.99	0.98	Convulsions, familial infantile, with paroxysmal choreoathetosis,	602066
PRRT2	80.7	0.99	0.98	Episodic kinesigenic dyskinesia 1	128200
PRRT2	80.7	0.99	0.98	Seizures, benign familial infantile, 2	605751
PYCR2	137.6	0.99	0.98	Leukodystrophy, hypomyelinating, 10	616420
REEP1	113.8	0.98	0.96	Spastic paraplegia 31 autosomal dominant,	610250
REEP1	113.8	0.98	0.96	?Neuronopathy, distal hereditary motor, type VB,	614751
RNASEH2A	149.3	1	0.99	Aicardi-Goutieres syndrome 4	610333
RNASEH2B	125.1	0.94	0.84	Aicardi-Goutieres syndrome 2	610181
RNASEH2C	207.6	0.99	0.97	Aicardi-Goutieres syndrome 3	610329
RNF170	149.4	0.98	0.93	Ataxia, sensory, 1 autosomal dominant,	608984
RNF216	154.3	0.99	0.98	Cerebellar ataxia and hypogonadotropic hypogonadism,	212840
RTN2	113.2	0.98	0.95	Spastic paraplegia 12 autosomal dominant,	604805
SACS	170.8	1	0.99	Spastic ataxia, Charlevoix-Saguenay type,	270550
SAMHD1	149.9	0.99	0.98	Aicardi-Goutieres syndrome 5	612952
SAMHD1	149.9	0.99	0.98	?Chilblain lupus 2	614415
SCN8A	224.3	0.99	0.99	Epileptic encephalopathy, early infantile, 13	614558
SCN8A	224.3	0.99	0.99	?Cognitive impairment with or without cerebellar ataxia,	614306
SERAC1	125.5	0.98	0.94	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome,	614739
SETX	187.1	0.99	0.99	Amyotrophic lateral sclerosis 4 juvenile,	602433
SETX	187.1	0.99	0.99	Spinocerebellar ataxia, autosomal recessive 1	606002
SGCE	95.4	0.94	0.89	Dystonia-11, myoclonic,	159900
SIL1	173.8	0.99	0.98	Marinesco-Sjogren syndrome,	248800
SLC12A6	169.6	1	0.99	Agenesis of the corpus callosum with peripheral neuropathy,	218000
SLC16A2	69.6	0.96	0.86	Allan-Herndon-Dudley syndrome,	300523
SLC19A3	191.3	1	1	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),	300523
SLC19A3	191.3	1	1	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),	607483
SLC1A3	153.6	1	1	Episodic ataxia, type 6	612656
SLC20A2	122.2	0.99	0.95	Basal ganglia calcification, idiopathic, 1	213600
SLC25A15	228.7	0.98	0.95	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome,	238970
SLC2A1	183.5	1	1	Dystonia 9	601042
SLC2A1	183.5	1	1	GLUT1 deficiency syndrome 1 infantile onset, severe,	606777
SLC2A1	183.5	1	1	GLUT1 deficiency syndrome 2 childhood onset,	612126
SLC2A1	183.5	1	1	Stomatin-deficient cryohydrocytosis with neurologic defects,	608885
SLC2A1	183.5	1	1	{Epilepsy, idiopathic generalized, susceptibility to, 12},	614847
SLC30A10	192.1	0.99	0.99	Hypermanganesemia with dystonia 1	613280
SLC33A1	148.5	0.96	0.89	Congenital cataracts, hearing loss, and neurodegeneration,	614482
SLC33A1	148.5	0.96	0.89	Spastic paraplegia 42 autosomal dominant,	612539
SLC39A14	122.3	0.99	0.98	Hypermanganesemia with dystonia 2	617013
SLC52A2	196.4	1	1	Brown-Vialetto-Van Laere syndrome 2	614707
SLC52A3	124.5	1	0.99	Brown-Vialetto-Van Laere syndrome 1	211530
SLC52A3	124.5	1	0.99	Fazio-Londe disease,	211500
SLC6A3	153.5	1	0.99	Parkinsonism-dystonia, infantile,	613135
SLC6A3	153.5	1	0.99	{Nicotine dependence, protection against},	188890
SLC9A1	169.6	1	1	?Lichtenstein-Knorr syndrome,	616291
SMPD1	134.3	0.99	0.97	Niemann-Pick disease, type A,	257200
SMPD1	134.3	0.99	0.97	Niemann-Pick disease, type B,	607616
SNCA	150	1	1	Dementia, Lewy body,	127750
SNCA	150	1	1	Parkinson disease 1	168601
SNCA	150	1	1	Parkinson disease 4	605543
SNX14	76.2	0.92	0.82	Spinocerebellar ataxia, autosomal recessive 20	616354
SPAST	71.8	0.93	0.82	Spastic paraplegia 4 autosomal dominant,	182601
SPG11	146.9	0.98	0.96	Amyotrophic lateral sclerosis 5 juvenile,	602099
SPG11	146.9	0.98	0.96	Charcot-Marie-Tooth disease, axonal, type 2X,	616668
SPG11	146.9	0.98	0.96	Spastic paraplegia 11 autosomal recessive,	604360
SPG20	166.4	0.99	0.97	Troyer syndrome,	275900
SPG21	146.1	0.99	0.96	Mast syndrome,	248900
SPG7	127.9	0.96	0.92	Spastic paraplegia 7 autosomal recessive,	607259
SPR	183.9	0.97	0.89	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency,	612716
SPTBN2	122.1	0.99	0.99	Spinocerebellar ataxia 5	600224
SPTBN2	122.1	0.99	0.99	Spinocerebellar ataxia, autosomal recessive 14	615386
STUB1	174	0.99	0.99	Spinocerebellar ataxia, autosomal recessive 16	615768
SUOX	219.5	1	1	Sulfite oxidase deficiency,	272300
SYNE1	156.8	0.99	0.99	Emery-Dreifuss muscular dystrophy 4 autosomal dominant,	612998
SYNE1	156.8	0.99	0.99	Spinocerebellar ataxia, autosomal recessive 8	610743
TAF1	141.1	0.99	0.97	Dystonia-Parkinsonism, X-linked,	314250
TAF1	141.1	0.99	0.97	Mental retardation, X-linked, syndromic 33	300966
TDP1	132	0.98	0.95	Spinocerebellar ataxia, autosomal recessive with axonal neuropathy,	607250
TECPR2	165.7	1	0.99	Spastic paraplegia 49 autosomal recessive,	615031
TGM6	153.7	0.99	0.97	Spinocerebellar ataxia 35	613908
TH	83.6	0.97	0.92	Segawa syndrome, recessive,	605407
THAP1	152.3	1	1	Dystonia 6 torsion,	602629
TIMM8A	45.5	0.87	0.7	Jensen syndrome,	311150
TIMM8A	45.5	0.87	0.7	Mohr-Tranebjaerg syndrome,	304700
TMEM240	130.5	1	0.99	Spinocerebellar ataxia 21	607454
TMEM67	78.9	0.92	0.83	COACH syndrome,	216360
TMEM67	78.9	0.92	0.83	Joubert syndrome 6	610688
TMEM67	78.9	0.92	0.83	Meckel syndrome 3	607361
TMEM67	78.9	0.92	0.83	Nephronophthisis 11	613550
TMEM67	78.9	0.92	0.83	{Bardet-Biedl syndrome 14 modifier of},	615991
TOR1A	233.5	1	0.99	Dystonia-1, torsion,	128100
TOR1A	233.5	1	0.99	{Dystonia-1, modifier of}	128100
TPP1	158.7	1	1	Ceroid lipofuscinosis, neuronal, 2	204500
TPP1	158.7	1	1	Spinocerebellar ataxia, autosomal recessive 7	609270
TREM2	134.3	0.99	0.98	Nasu-Hakola disease,	221770
TREX1	272.2	1	1	Aicardi-Goutieres syndrome 1 dominant and recessive,	225750
TREX1	272.2	1	1	Chilblain lupus,	610448
TREX1	272.2	1	1	Vasculopathy, retinal, with cerebral leukodystrophy,	192315
TREX1	272.2	1	1	{Systemic lupus erythematosus, susceptibility to},	152700
TTBK2	169.4	1	0.99	Spinocerebellar ataxia 11	604432
TTC19	106.2	0.9	0.81	Mitochondrial complex III deficiency, nuclear type 2	615157
TTPA	122.7	0.93	0.84	Ataxia with isolated vitamin E deficiency,	277460
TUBB4A	137	0.96	0.95	Dystonia 4 torsion, autosomal dominant,	128101
TUBB4A	137	0.96	0.95	Leukodystrophy, hypomyelinating, 6	612438
TUBG1	185.9	1	1	Cortical dysplasia, complex, with other brain malformations 4	615412
TYROBP	95.1	1	1	Nasu-Hakola disease,	221770
VAMP1	156.3	1	1	Spastic ataxia 1 autosomal dominant,	108600
VCP	168.4	0.99	0.99	Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia,	613954
VCP	168.4	0.99	0.99	Charcot-Marie-Tooth disease, type 2Y,	616687
VCP	168.4	0.99	0.99	Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	167320
VLDLR	244.5	1	0.99	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1	224050
VPS13A	81	0.93	0.84	Choreoacanthocytosis,	200150
VPS37A	79.7	0.86	0.69	Spastic paraplegia 53 autosomal recessive,	614898
VRK1	147	0.98	0.95	Pontocerebellar hypoplasia type 1A,	607596
WDR45	92.9	0.97	0.92	Neurodegeneration with brain iron accululation 5	300894
WDR81	171.3	0.99	0.99	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	610185
WWOX	148	1	0.99	Epileptic encephalopathy, early infantile, 28	616211
WWOX	148	1	0.99	Esophageal squamous cell carcinoma, somatic,	133239
WWOX	148	1	0.99	Spinocrebellar ataxia, autosomal recessive 12	614322
XPR1	155.9	0.99	0.99	Basal ganglia calcification, idiopathic, 6	616413
ZFYVE26	134.1	0.99	0.99	Spastic paraplegia 15 autosomal recessive,	270700
ZFYVE27	137.1	1	1	Spastic paraplegia 33 autosomal dominant,	610244
ZNF592	140.6	1	0.99	No OMIM phenotype	610244

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qGenEx® TMV. Panell de Trastorns del moviment

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® TMV analitza 165 gens associats a diferents tipus de trastorns del moviment, fent servir seqüenciació d’exoma complet mitjançant NGS.

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
ABAT
ACOX1
ACTB
ADAR
ADCY5
AFG3L2
ALDH18A1
ANO3
AP1S2
APTX
ARSA
ATM
ATP13A2
ATP1A2
ATP1A3
ATP7B
BCAP31
BCS1L
C19orf12
C9orf72
CACNA1A
CACNA1G
CACNB4
CHMP2B
CLN3
CLN5
CLPB
COASY
COL6A3
COX10
COX15
CP
CSF1R
CSTB
CYP27A1
DCAF17
DCTN1
DDC
DLAT
DLD
DNAJC12
DNAJC6
ECHS1
FA2H
FBXO7
FOLR1
FOXRED1
FTL
FXN
GBA
GCDH
GCH1
GFAP
GJC2
GLB1
GLRA1
GM2A
GNAL
GNAO1
GRN
GTPBP2
HCFC1
HEXA
HIBCH
HPCA
HSPD1
HTRA2
IFIH1
KCNA1
KCNMA1
KCNQ2
KCTD17
MYORG
KIF1C
KMT2B
LRPPRC
LRRK2
LYST
MAPT
MARS2
MECR
MRE11
MTFMT
NDUFA1
NDUFA10
NDUFAF5
NDUFAF6
NDUFS1
NDUFS4
NDUFS7
NDUFS8
NDUFV1
NGLY1
NKX2-1
NKX6-2
NPC1
NPC2
OCLN
OPA3
PANK2
PRKN
PARK7
PCCA
PCCB
PDE10A
PDE2A
PDGFB
PDGFRB
PDHA1
PDHX
PET100
PINK1
PLA2G6
PNKD
PNKP
POLR3A
PRKRA
PRNP
PRRT2
PTS
QDPR
RAB39B
RNASEH2B
RNASEH2C
RNASET2
RNF216
SAMHD1
SCN8A
SERAC1
SETX
SGCE
SLC19A3
SLC20A2
SLC2A1
SLC30A10
SLC39A14
SLC6A3
SLC6A8
SNCA
SPG11
SPR
SUCLA2
SUOX
SURF1
SYNJ1
TAF1
TBK1
TH
THAP1
TIMM8A
TOR1A
TPK1
TREX1
TUBB4A
VAC14
VAMP1
VAMP2
VPS13A
VPS13D
VPS35
WDR45
WDR73
XPR1
YY1
ZSWIM6

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

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El test pot demanar-se des de la Plataforma de Comandes, o bé descarregant el Full de Sol·licitud.

Accedeix a la plataforma de comandes Comanda sense plataforma

Com demano un test?

1) Emplenar la sol·licitud del test.

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.

2) Imprimir el full de sol·licitud.

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

3) Obtenir la mostra biològica.

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

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

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

No oblidi incloure una còpia del document de consentiment informat, signat pel pacient o els seus representants legals.

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

L’adreça d’enviament és:

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c/Joan XXIII, 10
08950 – Esplugues del Llobregat

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® TMV. Panell Trastorns del Moviment

qGenEx® TMV. Panell de Trastorns del moviment

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

qGenEx® MI. Panell Miopaties

qGenEx® NE. Panell Neuropaties

qGenEx® PC. Panell Ciliopaties

qGenEx® SC. Panell Sordeses

qGenEx® TDS. Panell Trastorns del Desenvolupament Sexual

qGenEx® THi. Panell Trastornos del metabolisme del Ferro

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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