List of diseases covered by
Spinocerebellar 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
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
ATP8A2 Cerebellar ataxia, mental retardation,
and dysequilibrium syndrome 4
ATP2B3 Spinocerebellar ataxia, X-linked 1
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
CASK FG syndrome 4; Mental retardation and microcephaly
with pontine and cerebellar hypoplasia;
Mental retardation, with or without nystagmus
CCDC88C Spinocerebellar ataxia 40;
Hydrocephalus, nonsyndromic, autosomal recessive
CEP290 Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4;
Senior-Loken syndrome 6
CLCN2 Leukoencephalopathy with ataxia;
Epilepsy, juvenile absence, susceptibility to, 2
CLN5 Ceroid lipofuscinosis, neuronal, 5
COQ8A Coenzyme Q10 deficiency, primary, 4
CWF19L1 Spinocerebellar ataxia, autosomal recessive 17
CYP27A1 Cerebrotendinous xanthomatosis
DARS2 Leukoencephalopathy with brain stem
and spinal cord involvement and lactate elevation
FAT2 Spinocerebellar ataxia 45
FXN Friedreich ataxia
GOSR2 Epilepsy, progressive myoclonic 6
GRM1 Spinocerebellar ataxia 44; Spinocerebellar ataxia, autosomal recessive 13
GSS Glutathione synthetase deficiency;
Hemolytic anemia due to glutathione synthetase deficiency
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
FGF14 Spinocerebellar ataxia 27
FLVCR1 Ataxia, posterior column, with retinitis pigmentosa
GRID2 Spinocerebellar ataxia, autosomal recessive 18
ITPR1 Spinocerebellar ataxia 15;
Spinocerebellar ataxia 29, congenital nonprogressive; Gillespie syndrome
KCNC3 Spinocerebellar ataxia 13
KCND3 Spinocerebellar ataxia 19; Brugada syndrome 9
KCNJ10 SESAME syndrome; Enlarged vestibular aqueduct, digenic
LAMA1 Poretti-Boltshauser syndrome
MAN2B1 Mannosidosis, alpha-, types I and II
MME Spinocerebellar ataxia 43;
Charcot-Marie-Tooth disease, axonal, type 2T
MECR Dystonia, childhood-onset,
with optic atrophy and basal ganglia abnormalities
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
PDYN Spinocerebellar ataxia 23
PEX7 Peroxisome biogenesis disorder 9B; Rhizomelic chondrodysplasia punctata, type 1
PHYH Refsum disease
PLD3 Spinocerebellar ataxia 46
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
PRKCG Spinocerebellar ataxia 14
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
SCYL1 Spinocerebellar ataxia, autosomal recessive 21
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SETX Spinocerebellar ataxia, autosomal recessive 1;
Amyotrophic lateral sclerosis 4, juvenile
SIL1 Marinesco-Sjogren 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
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
SPTBN2 Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive 14
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
TGM6 Spinocerebellar ataxia 35
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
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
UBA5 Spinocerebellar ataxia, autosomal recessive 24;
Epileptic encephalopathy, early infantile, 44
VPS13D Spinocerebellar ataxia, autosomal recessive 4
VWA3B Spinocerebellar ataxia, autosomal recessive 22
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