Genomics Precision Diagnostic > Neurology Precision Panel > Spinocerebellar Ataxia Precision Panel

Spinocerebellar Ataxia Precision Panel – 224 genes

Spinocerebellar Ataxia (SCA) refers to a heterogeneous group of progressive neurodegenerative diseases of genetic origin. Currently, more than 30 types have been described, most of which are autosomal dominant. Classification is done according to the clinical manifestations or genetic nosology.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Spinocerebellar Ataxia (SCA) refers to a heterogeneous group of progressive neurodegenerative diseases of genetic origin. Currently, more than 30 types have been described, most of which are autosomal dominant. Classification is done according to the clinical manifestations or genetic nosology. The most common type is SCA3. Ataxia is defined as the absence of voluntary muscle coordination and loss of control of movement affecting gait stability, eye movement and speech. The clinical hallmark of SCA is loss of balance and coordination accompanied by slurred speech; onset is most often in adult life. The main disease mechanism of these SCAs include toxic RNA gain-of-function, mitochondrial dysfunction, channelopathies, autophagy and transcription dysregulation. The prognosis is dependent upon the individual and genetic properties, but most patients develop severe, irreversible disability, while retaining full mental capacity.
The Igenomix Spinocerebellar Ataxia Precision Panel can be used as a tool for an accurate diagnosis and differential diagnosis of loss of balance and coordination ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved, and their high or intermediate penetrance.

Indication

The Igenomix Spinocerebellar Ataxia Precision Panel is used for patients with a clinical suspicion or diagnosis presenting with or without the following symptoms:
- Broad based gait ataxia
- Tremor
- Limb ataxia
- Nystagmus
- Difficulty speaking
- Decreased coordination
- Dementia

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment involving a multidisciplinary team in the form of orthopaedic care, use of special devices to assist with fine movements as
Risk assessment of asymptomatic family members according to the mode of inheritance via genetic counselling.
Improvement of delineation of genotype-phenotype correlation given the variability of severity and course of disease.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABCB7*	Anemia, Spinocerebellar Ataxia	X,XR,G	100	–
*ABHD12*	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract	AR	95.77	21 of 21
*ABHD5*	Chanarin– Dorfman Syndrome, Neutral Lipid Storage Disease, Ichthyosis	AR	99.98	37 of 37
*ACADVL*	Acyl-Coa Dehydrogenase Deficiency	AR	100	329 of 329
*ACO2*	Cerebellar– Retinal Degeneration, Optic Atrophy	AR	100	33 of 33
*AFG3L2*	Optic Atrophy, Spastic And Spinocerebellar Ataxia, Myoclonic Epilepsy, Neuropathy	AD,AR	99.74	42 of 42
*AHI1*	Joubert Syndrome, Ocular Defect, Retinitis Pigmentosa	AR	96.79	85 of 97
*ALDH5A1*	Succinic Semialdehyde Dehydrogenase Deficiency	AR	95.41	65 of 69
*AMACR*	Alpha– Methylacyl– Coa Racemase Deficiency, Bile Acid Synthesis Defect	AR	100	8 of 8
*ANO10*	Spinocerebellar And Cerebellar Ataxia	AR	100	28 of 28
*AP1S2*	Mental Retardation, Fried Syndrome, Dandy-Walker Malformation, Basal Ganglia Disease, Seizures, Intellectual Disability, Hypotonia	X,XR,G	84.15	–
*APTX*	Ataxia, Oculomotor Apraxia, Hypoalbuminemia	AR	100	44 of 44
*ARL13B*	Joubert Syndrome	AR	99.77	10 of 10
*ARL6*	Bardet– Biedl Syndrome, Retinitis Pigmentosa	AD,AR,X,XR,G	100	17 of 21
*ARSA*	Metachromatic Leukodystrophy	AR	98	266 of 266
*ATCAY*	Cerebellar Ataxia	AR	99.98	3 of 3
*ATG5*	Spinocerebellar Ataxia	AR	99.83	1 of 3
*ATM*	Ataxia– Telangiectasia, Breast Cancer, Mantle Cell Lymphoma	AD,AR	99.93	1608 of 1632
*ATN1*	Congenital Hypotonia, Epilepsy, Developmental Delay, Digital Anomalies, Seizures, Dementia, Dentatorubral Pallidoluysian Atrophy	AD	99.86	11 of 11
*ATP13A2*	Kufor-Rakeb Syndrome, Spastic Paraplegia, Neuronal Ceroid Lipofuscinosis	AR	99.97	53 of 53
*ATP1A3*	Alternating Hemiplegia Of Childhood, Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, Sensorineuralhearing Loss, Dystonia, Parkinson Disease	AD	99.94	138 of 138
*ATP2B3*	Spinocerebellar And Cerebelar Ataxia	X,XR,G	100	–
*ATP8A2*	Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome	AR	99.99	20 of 20
*ATXN1*	Spinocerebellar Ataxia	AD	99.93	2 of 2
*ATXN10*	Spinocerebellar Ataxia	AD	99.77	–
*ATXN2*	Parkinson Disease, Spinocerebellar Ataxia, Amyotrophic Lateral Sclerosis	AD	91.78	9 of 10
*ATXN3*	Machado– Joseph Disease	AD	99.94	–
*ATXN7*	Spinocerebellar Ataxia, Retinal Degeneration, Macular Degeneration, Ophthalmoplegia	AD	94.99	–
*ATXN8*	Spinocerebellar Ataxia	AD	–	–
*ATXN8OS*	Parkinson Disease, Spinocerebellar Ataxia	AD	–	–
*B9D1*	Joubert Syndrome, Meckel Syndrome	AR	90.23	11 of 11
*BBS1*	Bardet-Biedl Syndrome	AR	100	102 of 105
*BBS12*	Bardet-Biedl Syndrome	AR	99.78	61 of 61
*BEAN1*	Spinocerebellar Ataxia	AD	97.28	1 of 1
*BSCL2*	Encephalopathy, Neuronopathy, Spastic Paraplegia, Berardinelli– Seip Lipodystrophy, Motor Neuropathy, Neurodegenerative Syndrome	AD,AR	99.83	60 of 61
*BTD*	Biotinidase Deficiency	AR	100	261 of 262
*C12ORF65*	Oxidative Phosphorylation Deficiency, Spastic Paraplegia	AR	–	–
*C19ORF12*	Neurodegeneration, Brain Iron Accumulation, Spastic Paraplegia	AD,AR	–	–
*CA8*	Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome	AR	100	4 of 4
*CACNA1A*	Epileptic Encephalopathy, Migraine, Paroxysmal Torticollis, Spinocerebellar And Paroxisomal Ataxia	AD	96.13	249 of 266
*CACNA1G*	Spinocerebellar Ataxia	AD	99.52	16 of 16
*CACNB4*	Epilepsy, Ataxia	AD	99.87	5 of 5
*CAMTA1*	Cerebellar Ataxia, Mental Retardation	AD	99.8	6 of 6
*CASK*	Anemia, Fg Syndrome, Mental Retardation, Microcephaly, Cerebellar Hypoplasia, Epileptic Encephalopathy	X,XR,XD,G	99.98	–
*CC2D2A*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.43	98 of 100
*CCDC88C*	Hydrocephalus, Spinocerebellar Ataxia	AD,AR	99.44	13 of 14
*CEP290*	Bardet-Biedl Syndrome, Joubert Syndrome, Leber Amaurosis, Meckel Syndrome, Senior–Loken Syndrome	AR	96.47	293 of 327
*CEP41*	Joubert Syndrome	AR	100	17 of 17
*CHMP1A*	Pontocerebellar Hypoplasia	AR	100	4 of 4
*CLCN2*	Epilepsy, Seizures, Hyperaldosteronism, Leukoencephalopathy, Ataxia	AD,AR	100	39 of 39
*CLN5*	Ceroid Lipofuscinosis	AR	99.56	52 of 55
*CLN6*	Ceroid Lipofuscinosis	AR	99.94	98 of 99
*CLPP*	Perrault Syndrome	AR	99.91	11 of 11
*COA7*	Spinocerebellar Ataxia, Axonal Neuropathy	AR	99.99	6 of 6
*COASY*	Neurodegeneration, Brain Iron Accumulation, Pontocerebellar Hypoplasia	AR	99.5	5 of 5
*COQ2*	Coenzyme Q10 Deficiency, Multiple System Atrophy, Leigh Syndrome, Nephrotic Syndrome	AD,AR	99.61	37 of 38
*COQ8A*	Coenzyme Q10 Deficiency, Ataxia	AR	100	–
*COQ9*	Coenzyme Q10 Deficiency	AR	99.87	6 of 6
*COX20*	Mitochondrial Complex Iv Deficiency	AR,MI	99.88	5 of 5
CP	Aceruloplasminemia	AR	99.91	58 of 59
*CPLANE1*	Joubert Syndrome, Varadi-Papp Syndrome, Joubert Syndrome, Monomelic Amyotrophy, Orofaciodigital Syndrome	AR	–	–
*CSPP1*	Joubert Syndrome, Jeune Asphyxiating Thoracic Dystrophy, Meckel Syndrome	AR	98.32	29 of 30
*CWF19L1*	Spinocerebellar Ataxia	AR	100	6 of 6
*CYP27A1*	Cerebrotendinous Xanthomatosis	AR	100	118 of 118
*DAB1*	Spinocerebellar Ataxia	AD	99.98	–
*DARS2*	Leukoencephalopathy, Brainstem, Spinal Cord Involvement	AR	100	65 of 65
*DLAT*	Pyruvate Dehydrogenase E2 Deficiency	AR	99.99	5 of 5
*DNAJC19*	3- Methylglutaconic Aciduria, Dilated Cardiomyopathy, Ataxia	AR	100	6 of 6
*DNAJC5*	Ceroid Lipofuscinosis	AD	100	2 of 2
*DNMT1*	Cerebellar Ataxia, Deafness, Narcolepsy, Neuropathy	AD	97.87	30 of 30
*EEF2*	Spinocerebellar Ataxia	AD	94.75	4 of 4
*EIF2B1*	Leukoencephalopathy, Vanishing White Matter	AR	100	9 of 9
*EIF2B2*	Leukoencephalopathy, Vanishing White Matter	AR	100	30 of 30
*EIF2B3*	Leukoencephalopathy, Vanishing White Matter	AR	97.55	26 of 26
*EIF2B4*	Leukoencephalopathy, Vanishing White Matter	AR	100	31 of 31
*EIF2B5*	Leukoencephalopathy, Vanishing White Matter	AR	100	99 of 99
*ELOVL4*	Erythrokeratodermia, Ichthyosis, Spastic Quadriplegia, Mental Retardation, Stargardt Disease, Spinocerebellar Ataxia	AD,AR	100	16 of 17
*ELOVL5*	Spinocerebellar Ataxia	AD	99.47	6 of 6
*EXOSC3*	Pontocerebellar Hypoplasia	AR	100	19 of 20
*FA2H*	Spastic Paraplegia, Fatty Acid Hydroxylase- Associated Neurodegeneration	AR	88.77	60 of 62
*FAT2*	Spinocerebellar Ataxia	AD	100	6 of 6
*FBXL4*	Mitochondrial Dna Depletion Syndrome	AR	99.26	46 of 51
*FGF14*	Spinocerebellar Ataxia	AD	99.91	7 of 8
*FLVCR1*	Posterior Column Ataxia, Retinitis Pigmentosa	AR	99.96	26 of 26
*FTL*	Basal Ganglia Disease, L-Ferritin Deficiency, Hyperferritinemia, Neuroferritinopathy	AD,AR	100	21 of 63
*FXN*	Friedreich Ataxia	AR	99.93	52 of 52
*GALC*	Krabbe Disease	AR	99.38	252 of 254
*GBA*	Dementia, Gaucher Disease, Parkinson Disease, Ophthalmoplegia, Cardiovascular Calcification	AD,AR	100	469 of 471
*GBA2*	Spastic Paraplegia, Cerebellar Ataxia	AR	99.96	25 of 25
*GDAP2*	Spinocerebellar Ataxia	AR	99.96	3 of 3
*GFAP*	Alexander Disease	AD	99.98	143 of 143
*GJB1*	Charcot-Marie- Tooth Disease, Cerebellar Ataxia	X,XR,XD,G	100	–
*GJC2*	Leukodystrophy, Lymphedema, Spastic Paraplegia, Milroy Disease	AD,AR	95.37	52 of 63
*GOSR2*	Epilepsy	AR	88.39	6 of 6
*GRID2*	Spinocerebellar Ataxia	AR	99.95	16 of 21
*GRM1*	Spinocerebellar Ataxia	AD,AR	99.88	20 of 21
*GSS*	Glutathione Synthetase Deficiency, Hemolytic Anemia	AR	100	36 of 38
*HEPACAM*	Megalencephalic Leukoencephalopathy, Subcortical Cysts, Mental Retardation	AD,AR	97.87	30 of 30
*HEXB*	Sandhoff Disease	AR	99.92	109 of 115
*HIBCH*	3-Hydroxyisobutyryl- Coa Hydrolase Deficiency, Neurodegeneration	AR	96.47	27 of 27
*IFRD1*	Spinocerebellar Ataxia		100	2 of 2
*INPP5E*	Joubert Syndrome Mental Retardation, Truncal Obesity, Retinal Dystrophy	AR	99.89	56 of 56
*ITM2B*	Dementia, Retinal Dystrophy	AD	92	8 of 8
*ITPR1*	Aniridia, Cerebellar Ataxia, Mental Deficiency, Spinocerebellar Ataxia	AD,AR	99.87	93 of 97
*KCNA1*	Ataxia, Epileptic Encephalopathy, Continuous Muscle Fiber Activity, Paroxysmal Kinesigenic Dyskinesia	AD	100	49 of 49
*KCNC3*	Spinocerebellar Ataxia	AD	79.25	12 of 13
*KCND3*	Brugada Syndrome, Spinocerebellar Ataxia	AD	100	32 of 32
*KCNJ10*	Enlarged Vestibular Aqueduct, Pendred Syndrome, Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, East Syndrome	AR	93.53	27 of 32
*KIF1A*	Mental Retardation, Neuropathy, Spastic Paraplegia, Hereditary Sensory And Autonomic Neuropathy, Peho Syndrome	AD,AR	100	76 of 76
*KIF1C*	Ataxia, Spastic Paraplegia	AR	99.74	18 of 19
*KIF5A*	Amyotrophic Lateral Sclerosis, Myoclonus, Spastic Paraplegia	AD	100	85 of 85
*KIF7*	Acrocallosal Syndrome, Hydrolethalus Syndrome, Macrocephaly , Multiple Epiphyseal Dysplasia, Orofaciodigital Syndrome	AR	94.91	47 of 50
*LAMA1*	Poretti–Boltshauser Syndrome, Ataxia, Intellectual Disability, Oculomotor Apraxia	AR	100	43 of 43
*LMNB1*	Leukodystrophy	AD	99.66	4 of 4
*LRPPRC*	Leigh Syndrome	AR	98.94	18 of 18
*MARS2*	Ataxia, Oxidative Phosphorylation Deficiency, Leukoencephalopathy	AR	99.94	3 of 3
*MKS1*	Bardet–Biedl Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.98	49 of 49
*MLC1*	Megalencephalic Leukoencephalopathy	AR	100	104 of 106
*MME*	Charcot– Marie- Tooth Disease, Spinocerebellar Ataxia, Congenital Membranous Nephropathy, Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	AD,AR	100	33 of 33
*MRE11*	Ataxia– Telangiectasia- Like Disorder, Breast And Ovarian Cancer Syndrome	AR	99.95	–
*MTFMT*	Oxidative Phosphorylation Deficiency, Mitochondrial Complex I Deficiency, Leigh Syndrome, Leukodystrophy	AR	99.52	18 of 18
*MTPAP*	Spastic Ataxia, Optic Atrophy, Dysarthria	AR	99.99	2 of 2
*MTTP*	Abdominal Obesity- Metabolic Syndrome, Abetalipoproteinemia	AD,AR	100	69 of 71
*NDUFAF6*	Fanconi Renotubular Syndrome, Mitochondrial Complex I Deficiency, Leigh Syndrome, Leukodystrophy	AR	99.4	12 of 13
*NDUFS1*	Mitochondrial Complex I Deficiency, Leigh Syndrome, Leukodystrophy	AR	99.98	30 of 30
*NDUFS2*	Mitochondrial Complex I Deficiency, Leigh Syndrome, Leukodystrophy	AR	100	26 of 26
*NDUFS4*	Mitochondrial Complex I Deficiency, Leigh Syndrome, Leukodystrophy	AR,X,XD,MI,G	100	15 of 15
*NDUFS7*	Mitochondrial Complex I Deficiency, Leigh Syndrome, Leukodystrophy	AR	88	6 of 7
*NDUFV1*	Mitochondrial Complex I Deficiency, Leigh Syndrome, Leukodystrophy	AR	100	36 of 36
*NOP56*	Spinocerebellar Ataxia	AD	99.41	–
*NPC1*	Niemann-Pick Disease	AR	97	503 of 505
*NPC2*	Niemann-Pick Disease	AR	100	27 of 27
*NPHP1*	Joubert Syndrome, Nephronophthisis, Senior– Loken Syndrome, Bardet–Biedl Syndrome	AR	100	58 of 59
*NUBPL*	Mitochondrial Complex I Deficiency	AR	95.2	13 of 13
*OFD1*	Joubert Syndrome, Orofaciodigital Syndrome, Retinitis Pigmentosa, Simpson– Golabi– Behmel Syndrome, Ciliary Dyskinesia	X,XR,XD,G	98.09	–
*OPA1*	Behr Syndrome, Mitochondrial Dna Depletion Syndrome, Optic Atrophy Ophthalmoplegia, Myopathy, Ataxia, Neuropathy	AD,AR	99.98	397 of 402
*OPA3*	3-Methylglutaconic Aciduria, Optic Atrophy	AD,AR	100	18 of 18
*OPHN1*	Mental Retardation, Cerebellar Hypoplasia	X,XR,G	100	–
*PANK2*	Hypoprebetali- poproteinemia, Acanthocytosis, Retinitis Pigmentosa, Pallidal Degeneration, Neurodegeneration, Brain Iron Accumulation, Pantothenate Kinase- Associated Neurodegeneration	AR	98.92	177 of 182
*PAX6*	Aniridia, Anterior Segment Dysgenesis, Coloboma Of Optic Nerve, Hypoplasia, Keratitis, Optic Nerve Hypoplasia, Wilms Tumor, Chromosome 11p13 Deletion Syndrome, Morning Glory Disc Anomaly Peters Anomaly, Wagr Syndrome	AD	100	460 of 485
*PDHX*	Pyruvate Dehydrogenase E3-Binding Protein Deficiency	AR	97.21	18 of 20
*PDSS1*	Coenzyme Q10 Deficiency	AR	97.34	5 of 5
*PDSS2*	Coenzyme Q10 Deficiency, Leigh Syndrome, Nephrotic Syndrome	AR	99.99	6 of 6
*PDYN*	Spinocerebellar Ataxia	AD	100	13 of 13
*PEX10*	Ataxia , Refsum Disease, Adrenoleukodystrophy, Zellweger Syndrome	AR	99.76	29 of 32
*PEX2*	Refsum Disease, Adrenoleukodystrophy, Zellweger Syndrome	AR	99.89	17 of 17
*PEX6*	Heimler Syndrome, Spinocerebellar Ataxia, Blindness, Deafness, Refsum Disease, Adrenoleukodystrophy, Zellweger Syndrome	AD,AR	99.94	105 of 108
*PEX7*	Refsum Disease, Rhizomelic Chondrodysplasia Punctata, Refsum Disease, Zellweger Syndrome	AR	99.21	47 of 53
*PHYH*	Refsum Disease	AR	100	34 of 34
*PIK3R5*	Ataxia, Oculomotor Apraxia, Spinocerebellar Ataxia	AR	100	2 of 2
*PLA2G6*	Neuroaxonal Dystrophy, Neurodegeneration, Brain Iron Accumulation, Parkinson Disease	AR	99.94	190 of 191
*PLD3*	Spinocerebellar Ataxia	AD	99.83	22 of 22
*PLEKHG4*	Spinocerebellar Ataxia		99.97	2 of 2
*PLP1*	Pelizaeus– Merzbacher Disease, Spastic Paraplegia	X,XR,G	100	–
*PMPCA*	Spinocerebellar Ataxia, Cerebelloparenchymal Disorder	AR	99.91	9 of 9
*PNKD*	Paroxysmal Non-Kinesigenic Dyskinesia	AD	99.98	6 of 6
*PNKP*	Ataxia, Oculomotor Apraxia, Charcot-Marie- Tooth Disease Epileptic Encephalopathy	AR	100	36 of 36
*PNPLA6*	Boucher– Neuhauser Syndrome, Laurence– Moon Syndrome, Oliver– Mcfarlane Syndrome, Spastic Paraplegia, Hypogonadism, Choroidal Dystrophy, Cerebellar Ataxia	AR	100	65 of 65
*POLG*	Mitochondrial Dna Depletion Syndrome, Ophthalmoplegia, Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis, Alpers– Huttenlocher Syndrome, Neurogastrointestinal Encephalomyopathy, Mitochondrial Ataxia	AD,AR	99.92	325 of 326
*POLR3A*	Leukodystrophy, Progeroid Syndrome, Hypomyelination, Hypogonadotropic Hypogonadism, Hypodontia, Tremor, Ataxia, Central Hypomyelination, Wiedemann– Rautenstrauch Syndrome	AR	100	122 of 122
*POLR3B*	Leukodystrophy, Hypomyelination, Hypogonadotropic Hypogonadism, Hypodontia	AR	100	61 of 61
*PPP2R2B*	Spinocerebellar Ataxia	AD	99.97	2 of 2
*PRICKLE1*	Epilepsy, Unverricht– Lundborg Disease	AR	98.41	23 of 23
*PRKCG*	Spinocerebellar Ataxia	AD	100	52 of 52
*PRRT2*	Convulsions, Kinesigenic Dyskinesia, Hemiplegic Migraine, Choreoathetosis	AD	99.93	111 of 111
*PUM1*	Spinocerebellar Ataxia	AD	99.98	8 of 8
*RARS2*	Pontocerebellar Hypoplasia	AR	99.98	39 of 40
*RPGRIP1L*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.96	52 of 52
*RRM2B*	Mitochondrial Dna Depletion Syndrome, Ophthalmoplegia, Mitochondrial Myopathy, Kearns–Sayre Syndrome, Neurogastrointestinal Encephalomyopathy	AD,AR	92.38	46 of 46
*RUBCN*	Spinocerebellar Ataxia, Epilepsy, Intellectual Disability	AR	99.96	–
*SACS*	Spastic Ataxia	AR	99.91	291 of 292
*SCN2A*	Episodic Ataxia, Seizures, Dravet Syndrome, West Syndrome	AD	100	351 of 351
*SCYL1*	Spinocerebellar Ataxia, Acute Infantile Liver Failure, Peripheral Sensory Motor Neuropathy	AR	99.98	13 of 13
*SETX*	Amyotrophic Lateral Sclerosis, Spinocerebellar Ataxia	AD,AR	99.71	219 of 227
*SIL1*	Marinesco– Sjogren Syndrome	AR	100	47 of 48
*SLC16A2*	Allan– Herndon– Dudley Syndrome	X,XR,G	99.94	–
*SLC17A5*	Sialuria	AR	99.91	49 of 49
*SLC1A3*	Episodic Ataxia	AD	100	13 of 13
*SLC20A2*	Basal Ganglia Calcification, Bilateral Striopallidodentate Calcinosis	AD	99.96	123 of 127
*SLC25A46*	Neuropathy	AR	99.79	16 of 17
*SLC2A1*	Choreoathetosis, Epilepsy, Glucose Transport Defect, Cryohydrocytosis, Ataxia, Dyskinesia	AD,AR	99.99	301 of 304
*SLC52A2*	Brown– Vialetto– Van Laere Syndrome Spinocerebellar Ataxia, Blindness, Deafness	AR	100	31 of 32
*SLC52A3*	Bulbar Palsy, Deafness	AR	100	43 of 43
*SLC9A1*	Lichtenstein– Knorr Syndrome	AR	99.2	6 of 6
*SLC9A6*	Mental Retardation, Christianson Syndrome	X,XD,G	98.87	–
*SNX14*	Spinocerebellar Ataxia, Intellectual Disability, Macrocephaly, Cerebellar Hypotrophy	AR	99.8	18 of 18
*SPG11*	Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease, Spastic Paraplegia	AR	99.93	289 of 297
*SPG7*	Spastic Paraplegia, Primary Lateral Sclerosis	AD,AR	99.94	125 of 126
*SPR*	Dystonia, Sepiapterin Reductase Deficiency	AD,AR	99.89	27 of 27
*SPTBN2*	Spinocerebellar Ataxia	AD,AR	99.92	39 of 39
*STUB1*	Spinocerebellar Ataxia	AD,AR	99.93	36 of 36
*SYNE1*	Arthrogryposis Multiplex Congenita, Emery– Dreifuss Muscular Dystrophy, Spinocerebellar Ataxia	AD,AR	99.99	193 of 193
*SYT14*	Spinocerebellar Ataxia, Psychomotor Delay	AR	100	3 of 3
*TBP*	Parkinson Disease, Spinocerebellar Ataxia	AD	99.9	1 of 1
*TCTN2*	Joubert Syndrome, Meckel Syndrome	AR	100	14 of 14
*TDP1*	Spinocerebellar Ataxia, Axonal Neuropathy	AR	99.47	5 of 5
*TDP2*	Spinocerebellar Ataxia, Epilepsy, Intellectual Disability	AR	99.93	8 of 8
*TGM6*	Spinocerebellar Ataxia	AD	100	26 of 26
*THG1L*	Spinocerebellar Ataxia	AR	100	7 of 7
*TMEM216*	Joubert Syndrome, Meckel Syndrome, Orofaciodigital Syndrome	AR	98.74	8 of 8
*TMEM237*	Joubert Syndrome, Oculorenal Defect	AR	100	11 of 11
*TMEM240*	Spinocerebellar Ataxia	AD	99.1	9 of 9
*TMEM67*	Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Meckel Syndrome, Nephronophthisis, Rhyns Syndrome	AR	96.93	177 of 179
*TPP1*	Ceroid Lipofuscinosis, Spinocerebellar Ataxia	AR	100	147 of 147
*TRPC3*	Spinocerebellar Ataxia	AD	98.78	2 of 2
*TSEN2*	Pontocerebellar Hypoplasia	AR	95.47	4 of 5
*TSEN34*	Pontocerebellar Hypoplasia	AR	100	1 of 1
*TSEN54*	Encephalopathy, Olivopontocerebellar Hypoplasia	AR	96.94	20 of 22
*TTBK2*	Spinocerebellar Ataxia	AD	99.31	10 of 10
*TTC19*	Mitochondrial Complex Iii Deficiency	AR	95.3	10 of 12
*TTPA*	Vitamin E Deficiency, Ataxia	AR	99.31	30 of 30
*TUBB4A*	Dystonia Musculorum Deformans, Leukodystrophy	AD	89.81	44 of 44
*TWNK*	Spinocerebellar Ataxia, Perrault Syndrome, Ophthalmoplegia, Mitochondrial Dna Deletions, Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis	AD,AR	–	–
*UBA5*	Epileptic Encephalopathy, Spinocerebellar Ataxia	AR	99.98	19 of 19
*VAMP1*	Ataxia, Myasthenic Syndrome	AD,AR	99.51	8 of 8
*VLDLR*	Cerebellar Hypoplasia, Mental Retardation, Dysequilibrium Syndrome	AR	100	20 of 20
*VPS13D*	Spinocerebellar Ataxia	AR	99.97	19 of 19
*VRK1*	Pontocerebellar Hypoplasia	AR	99.64	15 of 15
*VWA3B*	Spinocerebellar Ataxia	AR	99.95	4 of 4
*WDR81*	Cerebellar Hypoplasia, Mental Retardation, Hydrocephalus, Dysequilibrium Syndrome	AR	99.94	19 of 19
*WFS1*	Cataract, Deafness, Diabetes Mellitus, Wolfram Syndrome	AD,AR	99.97	390 of 395
*WWOX*	Epileptic Encephalopathy, Esophageal Cancer, Spinocerebellar Ataxia, Partial Gonadal Dysgenesis, Squamous Cell Carcinoma Of The Esophagus	AR	99.94	44 of 44
*XRCC1*	Spinocerebellar Ataxia	AR	94.43	3 of 3
*ZFYVE26*	Spastic Paraplegia	AR	99.95	48 of 48

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

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