List of non-coding variants covered by Hereditary Ataxia NGS panel

List of non-coding variants covered by
Hereditary Ataxia NGS panel

Gene Non-coding variant
ADCK3 c.*72dupG
AMT c.-55C>T
ATM c.-30-1G>T
ATM c.2639-384A>G
ATM c.2839-579_2839-576delAAGT
ATM c.5763-1050A>G
CACNA1A c.631+5G>A
CACNA1A c.4093-3C>G
CACNA1A c.5403+2T>C
CEP290 c.2991+1655A>G
CEP290 c.1910-11T>G
CEP290 c.1066-1G>A
CEP290 c.1190-2A>G
CEP290 c.2052+1_2052+2delGT
CEP290 c.4438-3delC
CEP290 c.4813-2A>G
CEP290 c.3461+1G>A
CEP290 c.6135+2T>A
DARS c.228-22T>A
GSS c.-9+5G>A
KCNJ10 c.-1+1G>T
OFD1 c.935+706A>G
OFD1 c.1130-22_1130-19delAATT
OFD1 c.413-10T>G
PAX6 c.142-14C>G
PAX6 c.-52+5delG
PAX6 c.-52+3_-52+6delAAGTinsTG
PAX6 c.-52+3_-52+4delAA
PAX6 c.-128-2delA
PAX6 c.-129+2T>A
PAX6 c.-129+1G>A
PEX7 c.-45C>T
PNKP c.1386+49_1387_33delCCTCCTCCCCTGACCCC
SERAC1 c.92-165C>T
SERAC1 c.92-239G>C
SLC2A1 c.680-11G>A
SLC52A2 c.-110-1G>A
STUB1 c.*240T>C
SYNE1 c.15918-12A>G
TMEM231 c.824-11T>C
TPP1 c.887-18A>G
TTC19 c.-42G>T

List of diseases covered by Hereditary Ataxia NGS panel

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