Anemia sideroblasticwithataxiaXLR301310Polyneuropathyhearinglossat - PDF document

Anemia, sideroblastic,withataxiaXLR301310Polyneuropathy,hearingloss,ataxia,retinitispigmentosa, andcataractAR612674 ACO2Infantile cerebellar-retinaldegenerationAR614559 Optic atrophy9AR616289 AFG3L2Spinocerebellarataxia 28AD610246 Spasticataxia 5AR614487 Optic atrophy12-618977 Joubert syndrome 3AR608629 ANO10Spinocerebellarataxia,autosomal recessive 10AR613728 APTXAtaxia,early-onset,with oculomotorapraxia andhypoalbuminemia(ataxia-oculomotorapraxia1)AR208920 ATCAYAtaxia,cerebellar, CaymantypeAR601238 ATG5Spinocerebellarataxia,autosomal recessive 25AR617584 ATMAtaxia-telangiectasiaAR208900 ATP1A2Migraine,familialhemiplegic, 2AD602481 Migraine,familialbasilarAD602481 ATP1A3Alternating hemiplegia ofchildhood2AD614820 CAPOS syndromeAD601338 Dystonia-12AD128235 Spinocerebellarataxia,1XLR302500 ATP8A2Cerebellarataxia,mentalretardation,anddysequilibrium syndrome 4AR615268 Cerebellarataxiaand mental retardation withorwithout quadrupedal locomotion 3AR613227 CACNA1AEpilepticencephalopathy, early infantile,42AD617106 Episodicataxia,type 2AD108500 Migraine,familialhemiplegic, 1AD141500 Migraine,familialhemiplegic, 1,withprogressivecerebellar ataxiaAD141500 CACNA1GSpinocerebellarataxia 42AD616795 Spinocerebellarataxia 42, early-onset,severe,with neurodevelopmentaldeÞcitsAD618087 CACNB4Episodicataxia,type 5AD613855 Epilepsy,idiopathic generalized,susceptibilityto,9AD607682 Epilepsy,juvenile myoclonic, susceptibility to,6AD607682 CAMTA1Spasticataxia withvariable other neurologicalfeatures CAPN1Spasticparaplegia 76AR616907 FGsyndrome 4-300422 Mentalretardationand microcephalywith pontine andcerebellar hypoplasiaXLD300749 Mentalretardation,with orwithoutnystagmus-300422 DISEASES TESTED BY ATAXIANGS PANELGenePhenotype/ConditionInheritancePheno

typeMIM numberAtaxia Genetic TestingAsper Biogene LLCVaksali 17A, 50410 Tartu, Estoniainfo@asperbio.comwww.asperbio.com Ataxia Genetic TestingAsper Biogene LLCVaksali 17A, 50410 Tartu, Estoniainfo@asperbio.comwww.asperbio.comCC2D2ACOACHsyndromeAR216360 Joubert syndrome 9AR612285 Meckel syndrome 6AR612284 CCDC88CHydrocephalus,congenital, 1AR236600 Spinocerebellarataxia 40AD616053 CEP290Joubert syndrome 5AR610188 Leber congenitalamaurosis10-611755 Meckel syndrome 4AR611134 Senior-Loken syndrome 6AR610189 Bardet-Biedl syndrome 14AR615991 Spasticataxia 9AR618438 CHRNA4Epilepsy,nocturnal frontallobe, 1AD600513 CLCN2LeukoencephalopathywithataxiaAR615651 Epilepsy,juvenile absence,susceptibility to, 2AD607628 Hyperaldosteronism, familial,type IIAD605635 Epilepsy,juvenile myoclonic, susceptibility to,8AD607628 Epilepsy,idiopathic generalized,susceptibility to,11AD607628 CLN5Ceroidlipofuscinosis,neuronal,5AR256731 COA7Spinocerebellarataxia,autosomal recessive,withaxonalneuropathy 3AR618387 Frontotemporal dementiaand/or amyotrophiclateralsclerosis1AD105550 CoenzymeQ10deÞciency,primary,1AR607426 CoenzymeQ10deÞciency,primary,7AR616276 CoenzymeQ10deÞciency,primary,6AR614650 CoenzymeQ10deÞciency,primary,8AR616733 CoenzymeQ10deÞciency,primary,4(spinocerebellarataxia,autosomal recessive 9)AR612016 CoenzymeQ10deÞciency,primary,5AR614654 CPLANE1OrofaciodigitalsyndromeVIAR277170 Joubert syndrome 17AR614615 CWF19L1Spinocerebellarataxia,autosomalrecessive 17AR616127 CYP27A1CerebrotendinousxanthomatosisAR213700 DARS2Leukoencephalopathywithbrainstemandspinalcord involvementandlactate elevationAR611105 Epilepsy,familialfocal,with variable foci 1AD604364 DNMT1Cerebellarataxia,deafness,and narcolepsy,AD604121 Neuropathy, hereditary sensory, type IEAD614

116 EEF2Spinocerebellarataxia 26AD609306 ELOVL4Spinocerebellarataxia 34AD133190 Ichthyosis,spastic quadriplegia, andmentalAR614457 retardation Ataxia Genetic TestingAsper Biogene LLCVaksali 17A, 50410 Tartu, Estoniainfo@asperbio.comwww.asperbio.comStargardt disease 3AD600110 ELOVL5Spinocerebellarataxia 38AD615957 FAT2Spinocerebellarataxia 45AD617769 Epilepticencephalopathy, early infantile,47AD617166 Spinocerebellarataxia 27AD609307 FLVCR1Ataxia,posteriorcolumn,withretinitispigmentosaAR609033 FXNFriedreich ataxiaAR229300 Friedreich ataxia with retained reßexesAR229300 GDAP2Spinocerebellarataxia,autosomalrecessive 27AR618369 GSSGlutathione synthetase deÞciencyAR266130 Hemolyticanemia due to glutathionesynthetasedeÞciencyAR231900 GOSR2Epilepsy,progressive myoclonic6AR614018 GRID2Spinocerebellarataxia,autosomal recessive 18AR616204 GRM1Spinocerebellarataxia,autosomal recessive 13AR614831 Spinocerebellarataxia 44AD617691 GSX2Diencephalic-mesencephalicjunction dysplasiasyndrome 2AR618646 Spinocerebellarataxia 18AD607458 ITPR1Spinocerebellarataxia 29, congenital nonprogressiveAD117360 Gillespie syndromeAD,AR206700 Spinocerebellarataxia 15AD606658 KCNA1Episodicataxia1/myokymia syndromeAD160120 Spinocerebellarataxia 13AD605259 Spinocerebellarataxia 19AD607346 Brugada syndrome 9AD616399 KCNJ10Enlargedvestibular aqueduct,digenicAR612780 SESAME syndromeAR600791 KCNMA1Epilepsy,idiopathic generalized,susceptibilityto,16AD618596 Cerebellaratrophy, developmental delay,andseizuresAR617643 Liang-Wang syndromeAD618729 Paroxysmal nonkinesigenicdyskinesia,3,with orwithout generalizedepilepsy Myokymia;Seizures,benign neonatal,1AD121200 Epilepticencephalopathy, early infantile,7AD613720 KIF1CSpasticataxia 2AR611302 LAMA1Poretti-Boltshauser syndrome

AR615960 MAN2B1Mannosidosis, alpha-,types Iand IIAR248500 MARS2Spasticataxia 3AR611390 Combinedoxidative phosphorylationdeÞciency25AR616430 MMECharcot-Marie-Tooth disease,axonal, type 2TAD,AR617017 Spinocerebellarataxia 43AD617018 MECRDystonia, childhood-onset,with optic atrophy andbasalgangliaabnormalitiesAR617282 ELOVL4 Ataxia Genetic TestingAsper Biogene LLCVaksali 17A, 50410 Tartu, Estoniainfo@asperbio.comwww.asperbio.comEarly-onsetataxiaAR- MTPAPSpasticataxia 4AR613672 NKX6-2Spasticataxia 8,autosomal recessive,withhypomyelinatingleukodystrophyAR617560 NOP56Spinocerebellarataxia 36AD614153 NPC1Niemann-Pickdisease,type C1AR257220 Niemann-Pickdisease, typeDAR257220 NPC2Niemann-pickdisease, typeC2AR607625 Orofaciodigitalsyndrome IXLD311200 Simpson-Golabi-Behmel syndrome, type 2XLR300209 Retinitispigmentosa 23XLR300424 Joubertsyndrome 10XLR300804 OPHN1Mentalretardation,with cerebellarhypoplasia anddistinctive facialappearanceXLR300486 PAX6Coloboma ofopticnerveAD120430 Coloboma, ocularAD120200 MorningglorydiscanomalyAD120430 AniridiaAD106210 Anteriorsegment dysgenesis 5,multiple subtypesAD604229 Cataract with late-onsetcorneal dystrophyAD106210 Fovealhypoplasia 1AD136520 KeratitisAD148190 Optic nerve hypoplasiaAD165550 Diencephalic-mesencephalicjunction dysplasiasyndrome 1AR251280 PDSS1CoenzymeQ10deÞciency,primary,2AR614651 PDSS2CoenzymeQ10deÞciency,primary,3AR614652 Spinocerebellarataxia 23AD610245 PEX7Rhizomelicchondrodysplasia punctata, type 1AR215100 Peroxisome biogenesisdisorder 9BAR614879 Refsum diseaseAR266500 Ataxia-oculomotorapraxia3AR615217 Spinocerebellarataxia 46AD617770 PMPCASpinocerebellarataxia,autosomal recessive 2AR213200 PNKDParoxysmal nonkinesigenicdyskinesia 1AD118800 PNKPMicrocephaly,seizures,anddevelopment

al delayAR613402 Charcot-Marie-Tooth disease,type 2B2AR605589 Ataxia-oculomotorapraxia4AR616267 PNPLA6Spasticparaplegia 39AR612020 Laurence-MoonsyndromeAR245800 Oliver-McFarlane syndromeAR275400 Boucher-NeuhausersyndromeAR215470 Mitochondrial DNA depletion syndrome 4A (AlpersAR203700 Mitochondrial DNA depletion syndrome 4B (MNGIEAR613662 Ataxia Genetic TestingAsper Biogene LLCVaksali 17A, 50410 Tartu, Estoniainfo@asperbio.comwww.asperbio.comMitochondrial recessive ataxia syndrome(includesSANDOandSCAE)AR607459 Progressive externalophthalmoplegia,autosomaldominant 1AD157640 Progressive externalophthalmoplegia,autosomalrecessive 1AR258450 Leukodystrophy, hypomyelinating,7, withor withoutoligodontiaand/orhypogonadotropichypogonadism Wiedemann-RautenstrauchsyndromeAR264090 Leukodystrophy, hypomyelinating,8, withor withoutoligodontiaand/orhypogonadotropichypogonadismAR614381 Spinocerebellarataxia 14AD605361 PRRT2Convulsions,familial infantile, with paroxysmalchoreoathetosisAD602066 Episodickinesigenicdyskinesia1AD128200 Seizures,benignfamilialinfantile,2AD605751 PUM1Spinocerebellarataxia 47AD617931 Spinocerebellarataxia,autosomal recessive 15AR615705 PTF1APancreatic andcerebellaragenesisAR609069 Pancreatic agenesis 2AR615935 Lissencephaly 2(Norman-Robertstype)AR257320 Epilepsy,familialtemporallobe,7AD616436 RNF216Cerebellarataxiaand hypogonadotropichypogonadism (Gordon Holmessyndrome)AR212840 SACSSpasticataxia, Charlevoix-SaguenaytypeAR270550 Ataxia-pancytopeniasyndromeAD159550 SCN1AMigraine,familialhemiplegic, 3AD609634 SCN2ASeizures,benignfamilialinfantile,3AD607745 Epilepticencephalopathy,earlyinfantile, 11AD613721 Episodicataxia,type 9AD618924 SCN8AMyoclonus,familial,2AD618364 Cognitive impairmentwithorwithoutcerebellar Epilepti

cencephalopathy, early infantile,13 Seizures,benignfamilial infantile, 5 SCYL1Spinocerebellarataxia,autosomal recessive 21AR616719 SERAC13-methylglutaconicaciduriawith deafness,encephalopathy,andLeigh-like syndromeAR614739 SETXSpinocerebellarataxia with axonal neuropathy 2(ataxia-oculomotorapraxia2)AR606002 Amyotrophic lateralsclerosis 4,juvenileAD602433 Marinesco-Sjogren syndromeAR248800 SLC1A3Episodicataxia,type 6AD612656 SLC2A1GLUT1 deÞciencysyndrome 1,infantile onset,severeAD,AR606777 GLUT1deÞciency syndrome 2,childhoodonsetAD612126 Stomatin-deÞcient cryohydrocytosiswith neurologicAD608885 defects Ataxia Genetic TestingAsper Biogene LLCVaksali 17A, 50410 Tartu, Estoniainfo@asperbio.comwww.asperbio.comEpilepsy,idiopathic generalized,susceptibilityto,12AD614847 Dystonia9AD601042 SLC9A1Lichtenstein-KnorrsyndromeAR616291 SLC9A6Mentalretardation,syndromic,Christianson typeXLD300243 SLC16A2Allan-Herndon-Dudley syndromeXL300523 SLC25A46Neuropathy, hereditary motor andsensory, typeVIBAR616505 SLC52A2Brown-Vialetto-VanLaeresyndrome 2AR614707 Spinocerebellarataxia,autosomal recessive 20AR616354 Spasticparaplegia 7AR607259 SPTBN2Spinocerebellarataxia,autosomal recessive 14AR615386 Spinocerebellarataxia 5AD600224 SQSTM1Myopathy, distal,with rimmed vacuolesAD617158 Neurodegenerationwithataxia,dystonia, andgazepalsy, childhood-onsetAR617145 Pagetdisease ofbone 3AD167250 Frontotemporal dementiaand/or amyotrophiclateralsclerosis3AD616437 STUB1Spinocerebellarataxia 48AD618093 Spinocerebellarataxia,autosomal recessive 16AR615768 SYNE1Emery-Dreifuss musculardystrophy4,autosomaldominantAD612998 Arthrogryposis multiplex congenita 3,myogenictypeAR618484 Spinocerebellarataxia,autosomal recessive 8AR610743 SYT14Spinocerebellarataxia,autosomal rec

essive 11AR614229 Spinocerebellarataxia,autosomal recessive,withaxonalneuropathy 1AR607250 Spinocerebellarataxia,autosomal recessive 23AR616949 TGM6Spinocerebellarataxia 35AD613908 Spinocerebellar ataxia, autosomal recessive 28AR618800 TMEM231Joubert syndrome 20AR614970 Meckel syndrome 11AR615397 TMEM240Spinocerebellarataxia 21AD607454 Spinocerebellarataxia 11AD604432 Ceroidlipofuscinosis,neuronal,2AR204500 Spinocerebellarataxia,autosomalrecessive 7AR609270 Spinocerebellarataxia 41AD616410 TSFMCombinedoxidative phosphorylationdeÞciency3AR610505 TTC19Mitochondrial complex IIIdeÞciency, nucleartype 2AR615157 TTPAAtaxia withisolatedvitaminEdeÞciencyAR277460 Dystonia4,torsionAD128101 Leukodystrophy, hypomyelinating,6AD612438 TWNKMitochondrial DNA depletion syndrome 7(hepatocerebraltype)AR271245 SLC2A1 Ataxia Genetic TestingAsper Biogene LLCVaksali 17A, 50410 Tartu, Estoniainfo@asperbio.comwww.asperbio.comProgressive externalophthalmoplegiawith mitochondrial DNA deletions,3AD609286 Perrault syndrome 5AR616138 Combinedoxidative phosphorylationdeÞciency29AR616811 Epilepticencephalopathy, early infantile,44AR617132 Spinocerebellarataxia,autosomal recessive 24AR617133 Episodicataxia,type 8AD616055 VAMP1Myasthenic syndrome,congenital,25AR618323 Spasticataxia 1AD108600 VLDLRCerebellarhypoplasia andmentalretardationwith orwithout quadrupedal locomotion 1AR224050 VPS13DSpinocerebellarataxia,autosomal recessive 4AR607317 VWA3BSpinocerebellarataxia,autosomal recessive 22AR616948 WDR73Galloway-Mowatsyndrome 1(spinocerebellar ataxia,autosomalrecessive 5)AR251300 WDR81Cerebellarataxia,mentalretardation,anddysequilibrium syndrome 2AR610185 WFS1Wolfram-like syndromeAD614296 Deafness,6/14/38AD600965 Cataract 41AD116400 Diabetesmellitus,noninsulin-

dependent,associationAD125853 Wolfram syndrome 1AR222300 WWOXEpilepticencephalopathy, early infantile,28AR616211 Esophagealsquamouscellcarcinoma,somatic-133239 Spinocerebellarataxia,autosomal recessive 12AR614322 XRCC1Spinocerebellarataxia,autosomal recessive 26AR617633 ATN1Congenital hypotonia,epilepsy,developmentaldelay, anddigital anomaliesAD618494 Dentatorubral-pallidoluysianatrophyAD125370 Spinocerebellarataxia 1AD164400 Spinocerebellarataxia 2 Machado-Joseph disease(spinocerebellarataxia3)AD109150 Spinocerebellarataxia 7AD164500 Spinocerebellarataxia 8 Spinocerebellarataxia 10AD603516 BEAN1Spinocerebellarataxia 31AD117210 CACNA1ASpinocerebellarataxia6AD183086 FXNFriedreich ataxia; Friedreich ataxiawith retainedreßexesAR229300 NOP56Spinocerebellarataxia 36AD614153 Spinocerebellarataxia 12AD604326 SLC2A1 GenePhenotype/ConditionInheritancePhenotypeMIM numberDISEASES TESTED BYREPEAT EXPANSIONPANEL Spinocerebellarataxia 17AD607136 Ataxia Genetic TestingAsper Biogene LLCVaksali 17A, 50410 Tartu, Estoniainfo@asperbio.comwww.asperbio.comFMR1Fragile Xtremor/ataxiasyndromeXLD300623Fragile XsyndromeXLD300624 Premature ovarianfailure1XL311360 MT-TKMTT-L1MT-THMT-TS1MT-TS2MT-TFMT-ND5MyoclonicEpilepsyassociatedwithRagged-RedFibers(MERRF)mitochondrial545000MT-ATP6Neuropahty, Ataxia, andRetinitisPigmetosa (NARP)mitochondrial551500 deletionsKearns-Sayre syndromemitochondrial530000 CAMTA1Cerebellarataxia,andintellectualdisability(CANPMR)AD614756 GenePhenotype/ConditionInheritancePhenotypeMIM numberDISEASES TESTED BYREPEAT EXPANSION ANALYSIS GenePhenotype/ConditionInheritancePhenotypeMIM number DISEASES TESTED BYMITOCHONDRIAL GENOME SEQUENCING DISEASES TESTED BYCHROMOSOMAL MICROARRAY ANALYSIS GenePhenotype/ConditionInheritancePhenotypeMIM n