List of diseases covered by
Hereditary Ataxia NGS panel
| Gene | Condition |
| ABCB7 | Anemia, sideroblastic, with ataxia |
| ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
| ACO2 | Infantile cerebellar-retinal degeneration; Optic atrophy 9 |
| AFG3L2 | Spinocerebellar ataxia 28; Spastic ataxia 5, autosomal recessive |
| AHI1 | Joubert syndrome 3 |
| ANO10 | Spinocerebellar ataxia, autosomal recessive 10 |
| APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
| ATCAY | Ataxia, cerebellar, Cayman type |
| ATG5 | Spinocerebellar ataxia, autosomal recessive 25 |
| ATM | Ataxia-telangiectasia |
| ATP1A2 | Migraine, familial hemiplegic, 2; Migraine, familial basilar |
| ATP1A3 | Alternating hemiplegia of childhood 2; CAPOS syndrome; Dystonia-12 |
| ATP8A2 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 |
| ATP2B3 | Spinocerebellar ataxia, X-linked 1 |
| CA8 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 |
| CACNA1A | Spinocerebellar ataxia 6; Epileptic encephalopathy, early infantile, 42; Episodic ataxia, type 2; Migraine, familial hemiplegic, 1 |
| CACNA1G | Spinocerebellar ataxia 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits |
| CACNB4 | Episodic ataxia, type 5; Epilepsy, idiopathic generalized, susceptibility to, 9; Epilepsy, juvenile myoclonic, susceptibility to, 6 |
| CAMTA1 | Spastic ataxia with variable other neurologicalfeatures |
| CAPN1 | Spastic paraplegia 76 |
| CASK | FG syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia; Mental retardation, with or without nystagmus |
| CC2D2A | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 |
| CCDC88C | Spinocerebellar ataxia 40; Hydrocephalus, nonsyndromic, autosomal recessive |
| CEP290 | Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; Senior-Loken syndrome 6 |
| CHP1 | Spastic ataxia 9 |
| CHRNA4 | Epilepsy, nocturnal frontal lobe, 1 |
| CLCN2 | Leukoencephalopathy with ataxia; Epilepsy, juvenile absence, susceptibility to, 2 |
| CLN5 | Ceroid lipofuscinosis, neuronal, 5 |
| COA7 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 |
| C9orf72 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
| COQ2 | Coenzyme Q10 deficiency, primary, 1 |
| COQ4 | Coenzyme Q10 deficiency, primary, 7 |
| COQ6 | Coenzyme Q10 deficiency, primary, 6 |
| COQ7 | Coenzyme Q10 deficiency, primary, 8 |
| COQ9 | Coenzyme Q10 deficiency, primary, 5 |
| COQ8A | Coenzyme Q10 deficiency, primary, 4 |
| CPLANE1 | Orofaciodigital syndrome VI; Joubert syndrome 17 |
| CWF19L1 | Spinocerebellar ataxia, autosomal recessive 17 |
| CYP27A1 | Cerebrotendinous xanthomatosis |
| DARS2 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation |
| DEPDC5 | Epilepsy, familial focal, with variable foci 1 |
| DNMT1 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; Neuropathy, hereditary sensory, type IE |
| EEF2 | Spinocerebellar ataxia 26 |
| ELOVL4 | Spinocerebellar ataxia 34; Ichthyosis, spastic quadriplegia, and mental retardation; Stargardt disease 3 |
| ELOVL5 | Spinocerebellar ataxia 38 |
| FAT2 | Spinocerebellar ataxia 45 |
| FGF14 | Spinocerebellar ataxia 27 |
| FLVCR1 | Ataxia, posterior column, with retinitis pigmentosa |
| FXN | Friedreich ataxia |
| GDAP2 | Spinocerebellar ataxia, autosomal recessive 27 |
| GOSR2 | Epilepsy, progressive myoclonic 6 |
| GRID2 | Spinocerebellar ataxia, autosomal recessive 18 |
| GRM1 | Spinocerebellar ataxia 44; Spinocerebellar ataxia, autosomal recessive 13 |
| GSS | Glutathione synthetase deficiency; Hemolytic anemia due to glutathione synthetase deficiency |
| GSX2 | Diencephalic-mesencephalic junction dysplasia syndrome 2 |
| IFRD1 | Spinocerebellar ataxia 18 |
| ITPR1 | Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive; Gillespie syndrome |
| KCNA1 | Episodic ataxia 1/myokymia syndrome |
| KCNC3 | Spinocerebellar ataxia 13 |
| KCND3 | Spinocerebellar ataxia 19; Brugada syndrome 9 |
| KCNJ10 | SESAME syndrome; Enlarged vestibular aqueduct, digenic |
| KCNMA1 | Epilepsy, idiopathic generalized, susceptibility to, 16; Cerebellar atrophy, developmental delay, and seizures; Liang-Wang syndrome; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy |
| KCNQ2 | Myokymia; Seizures, benign neonatal, 1; Epileptic encephalopathy, early infantile, 7 |
| KIF1C | Spastic ataxia 2 |
| LAMA1 | Poretti-Boltshauser syndrome |
| MAN2B1 | Mannosidosis, alpha-, types I and II |
| MARS2 | Spastic ataxia 3; Combined oxidative phosphorylation deficiency 25 |
| MME | Spinocerebellar ataxia 43; Charcot-Marie-Tooth disease, axonal, type 2T |
| MECR | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities |
| MTCL1 | Early-onset ataxia |
| MTPAP | Spastic ataxia 4 |
| NKX6-2 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy |
| NOP56 | Spinocerebellar ataxia 36 |
| NPC1 | Niemann-Pick disease, type C1 |
| NPC2 | Niemann-pick disease, type C2 |
| OFD1 | Joubert syndrome 10; Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2 |
| OPHN1 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance |
| PAX6 | Cerebellar ataxia, and intellectual disability |
| PCDH12 | Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| PDSS1 | Coenzyme Q10 deficiency, primary, 2 |
| PDSS2 | Coenzyme Q10 deficiency, primary, 3 |
| PDYN | Spinocerebellar ataxia 23 |
| PEX7 | Peroxisome biogenesis disorder 9B; Rhizomelic chondrodysplasia punctata, type 1 |
| PHYH | Refsum disease |
| PIK3R5 | Ataxia-oculomotor apraxia 3 |
| PLD3 | Spinocerebellar ataxia 46 |
| PMPCA | Spinocerebellar ataxia, autosomal recessive 2 |
| PNKD | Paroxysmal nonkinesigenic dyskinesia 1 |
| PNKP | Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay |
| PNPLA6 | Spastic paraplegia 39, autosomal recessive; Oliver-McFarlane syndrome; Boucher-Neuhauser syndrome; Laurence-Moon syndrome |
| POLG | Mitochondrial DNA depletion syndrome 4A; Mitochondrial DNA depletion syndrome 4B; Mitochondrial recessive ataxia syndrome; Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1 |
| POLR3A | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Wiedemann-Rautenstrauch syndrome |
| POLR3B | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism |
| PRKCG | Spinocerebellar ataxia 14 |
| PRRT2 | Convulsions, familial infantile, with paroxysmal choreoathetosis; Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2 |
| PUM1 | Spinocerebellar ataxia 47 |
| RUBCN | Spinocerebellar ataxia, autosomal recessive 15 |
| PTF1A | Pancreatic agenesis 2; Pancreatic and cerebellar agenesis |
| RNF216 | Cerebellar ataxia and hypogonadotropic hypogonadism |
| SACS | Spastic ataxia, Charlevoix-Saguenay type |
| SAMD9L | Ataxia-pancytopenia syndrome |
| SCN1A | Migraine, familial hemiplegic, 3 |
| SCN2A | Seizures, benign familial infantile, 3; Epileptic encephalopathy, early infantile, 11; Episodic ataxia, type 9 |
| SCN8A | Myoclonus, familial, 2; Cognitive impairment with or without cerebellar ataxia; Epileptic encephalopathy, early infantile, 13; Seizures, benign familial infantile, 5 |
| SCYL1 | Spinocerebellar ataxia, autosomal recessive 21 |
| SERAC1 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| SETX | Spinocerebellar ataxia with axonal neuropathy 2 (ataxia-oculomotor apraxia 2); Amyotrophic lateral sclerosis 4, juvenile |
| SIL1 | Marinesco-Sjogren syndrome |
| SLC1A3 | Episodic ataxia, type 6 |
| SLC16A2 | Allan-Herndon-Dudley syndrome |
| SLC2A1 | Dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; GLUT1 deficiency syndrome 2, childhood onset; Stomatin-deficient cryohydrocytosis with neurologic defects; Epilepsy, idiopathic generalized, susceptibility to, 12 |
| SLC25A46 | Neuropathy, hereditary motor and sensory, type VIB |
| SLC9A1 | Lichtenstein-Knorr syndrome |
| SLC9A6 | Mental retardation, X-linked syndromic, Christianson type |
| SLC52A2 | Brown-Vialetto-Van Laere syndrome 2 |
| SNX14 | Spinocerebellar ataxia, autosomal recessive 20 |
| SPG7 | Spastic paraplegia 7 |
| SPTBN2 | Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14 |
| SQSTM1 | Myopathy, distal, with rimmed vacuoles; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 |
| STUB1 | Spinocerebellar ataxia, autosomal recessive 16 |
| SYNE1 | Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
| SYT14 | Spinocerebellar ataxia, autosomal recessive 11 |
| TTBK2 | Spinocerebellar ataxia 11 |
| TDP1 | Spinocerebellar ataxia, autosomal recessive with axonal neuropathy |
| TDP2 | Spinocerebellar ataxia, autosomal recessive 23 |
| TGM6 | Spinocerebellar ataxia 35 |
| THG1L | Spinocerebellar ataxia, autosomal recessive 28 |
| TMEM231 | Joubert syndrome 20; Meckel syndrome 11 |
| TMEM240 | Spinocerebellar ataxia 21 |
| TPP1 | Spinocerebellar ataxia, autosomal recessive 7; Ceroid lipofuscinosis, neuronal, 2 |
| TRPC3 | Spinocerebellar ataxia 41 |
| TSFM | Combined oxidative phosphorylation deficiency 3 |
| TTC19 | Mitochondrial complex III deficiency, nuclear type 2 |
| TTPA | Ataxia with isolated vitamin E deficiency |
| TUBB4A | Dystonia 4, torsion, autosomal dominant; Leukodystrophy, hypomyelinating, 6 |
| TWNK | Perrault syndrome 5; Mitochondrial DNA depletion syndrome 7; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| TXN2 | Combined oxidative phosphorylation deficiency 29 |
| UBA5 | Spinocerebellar ataxia, autosomal recessive 24; Epileptic encephalopathy, early infantile, 44 |
| UBR4 | Episodic ataxia, type 8 |
| VAMP1 | Myasthenic syndrome, congenital, 25; Spastic ataxia 1 |
| VLDLR | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
| VPS13D | Spinocerebellar ataxia, autosomal recessive 4 |
| VWA3B | Spinocerebellar ataxia, autosomal recessive 22 |
| WDR73 | Galloway-Mowat syndrome 1 (spinocerebellar ataxia, autosomal recessive 5) |
| WDR81 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 |
| WFS1 | Wolfram syndrome 1; Wolfram-like syndrome, autosomal dominant; Deafness, autosomal dominant 6/14/38 |
| WWOX | Spinocerebellar ataxia, autosomal recessive 12; Epileptic encephalopathy, early infantile, 28 |
| XRCC1 | Spinocerebellar ataxia, autosomal recessive 26 |