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
ATM Ataxia-telangiectasia
ATP8A2 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
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
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
FXN Friedreich ataxia
GOSR2 Epilepsy, progressive myoclonic 6
GRM1 Spinocerebellar ataxia 44; Spinocerebellar ataxia, autosomal recessive 13
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
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
NOP56 Spinocerebellar ataxia 36
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-pick disease, type C2
OPHN1 Mental retardation, X-linked,
with cerebellar hypoplasia and distinctive facial appearance
PDYN Spinocerebellar ataxia 23
PHYH Refsum disease
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
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
SETX Spinocerebellar ataxia, autosomal recessive 1;
Amyotrophic lateral sclerosis 4, juvenile
SIL1 Marinesco-Sjogren syndrome
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
TMEM240 Spinocerebellar ataxia 21
TPP1 Spinocerebellar ataxia, autosomal recessive 7;
Ceroid lipofuscinosis, neuronal, 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
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