Spinocerebellar Ataxias (SCA) Comprehensive Panel
Disease summary:
Spinocerebellar ataxias (SCA) are a group of hereditary neurological disorders characterized by slowly progressive ataxia accompanied by cerebellar degeneration. Ataxia is gait imbalance associated with limb incoordination and loss of fine and gross motor control 1,2,3,4.
The most common types of SCA are caused by nucleotide repeat expansions in genes (Table 1), with the onset and severity of disease depending on the repeat size. Within the same gene, larger expansions can cause a more severe and earlier-onset disease, while shorter expansions cause later-onset disease with a milder phenotype.
More than 40 different genes are known to cause SCA which cause autosomal-dominant, autosomal-recessive, and X-linked spinocerebellar ataxias (Tables 1 and 2)5-26.
Autosomal dominant, Autosomal recessive, X-linked
1-9/100,000 for all SCAs 2, 3
1-5/100,000 for autosomal dominant cerebellar ataxias (ADCA) 2, 3
3/100,000 for autosomal recessive forms (SCAR) 3
Major clinical findings specific for ataxia include the following 1, 2, 4, 5:
- Gait imbalance and uncoordinated walk (ataxia)
- Dysarthria (abnormal speech)
- Abnormal involuntary eye movements (gaze palsies, slowed saccades, ocular “stare”, blepharospasm, ptosis)
- Classic cerebellar signs (like dysmetria, dysdiadochokinesia, intention tremor, etc.)
Less common clinical symptoms 1, 4, 5:
- Peripheral neuropathy
- Seizures
- Hearing loss
- Visual loss with retinopathy
- Cognitive decline, dementia, learning difficulties
- Presence of the specific clinical features
- Presence of characteristic diagnostic imaging features
- Identification of a repeat expansion in one of the following genes: ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, ATN1, BEAN1, FXN, NOP56, PPP2R2B, TBP, CACNA1A (Table 1)
- Identification of pathogenic variant(s) in one of the following genes (Table 2): ABCB7, ABHD12, ABHD5, ACADVL, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP2B3, CA8, CACNA1A, CCDC88C, COQ8A, CWF19L1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, FXN, GRID2, GRM1, ITPR1, KCNC3, KCND3, PDYN, PRKCG, RUBCN, SACS, SETX, SIL1, SLC1A3, SLC2A1, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TGM6, TPP1, TTBK2, TTPA, TWNK, VAMP1, WWOX, ZNF592.
There is no known cure for spinocerebellar ataxia. There are several ongoing clinical trials to test new, potential drugs for SCA. Currently, supportive treatment and management of affected individuals depend on the predominant signs and symptoms present in each person:
- Physical therapy (fall prevention)
- Special devices (e.g., cane, crutches) for mobility
- Speech therapy
- Specific medications to treat sleep disturbances
- Fragile X Tremor and ataxia syndrome (FXTAS) caused by increased CGG repeats in the FMR1 gene
- Ataxia with isolated vitamin E deficiency
- Ataxia-telangiectasia caused by pathogenic variant in gene ATM
- Ataxia oculomotor apraxia caused by pathogenic variants in APTX or SETX
- Angelman syndrome caused by pathogenic variants in UBE3A gene or chr15q11.2 abnormalities
- Ataxic cerebral palsy caused by pathogenic variants in CPAT1
- Refsum disease caused by pathogenic variants in PHYH or PEX7
To confirm/establish the diagnosis, CENTOGENE offers the following tests:
- SCA repeat expansion panel which includes repeat expansion analysis of the genes: ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, ATN1, BEAN1, FXN, NOP56, PPP2R2B, TBP, CACNA1A
- SCA comprehensive NGS Panel which includes sequencing of the genes ABCB7, ABHD12, ABHD5, ACADVL, ADCK3, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP2B3, C10ORF2, CA8, CACNA1A, CCDC88C, CWF19L1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, FXN, GRID2, GRM1, ITPR1, KCNC3, KCND3, RUBCN, PDYN, PRKCG, SACS, SETX, SIL1, SLC1A3, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TGM6, TPP1, TTBK2, TTPA, VAMP1, WWOX, ZNF592; and repeat expansion analysis of the genes: ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, ATN1, BEAN1, FXN, NOP56, PPP2R2B, TBP, CACNA1A
- SCA comprehensive NGS Panel + CNV which includes sequencing and repeat expansion analysis and additionally detection of large deletions and duplications from the NGS data
- Individuals with a positive family history of SCA
- Individuals with most common symptoms of SCA (regardless of family history)
Confirmation of a clinical diagnosis through genetic testing of SCA can allow for genetic counseling and may direct medical management.
Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
---|---|---|---|
ABCB7 | 300135 | Anemia, Sideroblastic, and Spinocerebellar Ataxia | XLR |
ABHD12 | 613599 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | AR |
ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
ACADVL | 609575 | very long chain acyl-CoA dehydrogenase deficiency | AR |
ACO2 | 100850 | Infantile cerebellar-retinal degeneration | AR |
AFG3L2 | 604581 | spinocerebellar ataxia 28; spastic ataxia 5 | AD, AR |
AHI1 | 608894 | Joubert syndrome 3 | AR |
ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
AMACR | 604489 | Alpha-methylacyl-CoA racemase deficiency | AR |
ANO10 | 613726 | autosomal recessive spinocerebellar ataxia 10 | AR |
AP1S2 | 300629 | Pettigrew syndrome | XLR |
APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
ARL13B | 608922 | Joubert syndrome 8 | AR |
ARL6 | 608845 | Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | AR, DiR |
ARSA | 607574 | metachromatic leukodystrophy | AR |
ATCAY | 608179 | Ataxia, cerebellar, Cayman type | AR |
ATM | 607585 | familial breast-ovarian cancer type 2; ataxia-telangiectasia | AD, AR |
ATN1 | 607462 | Dentatorubro-pallidoluysian atrophy; congenital hypotonia, epilepsy, developmental delay, and digital anomalies | AD |
ATP13A2 | 610513 | Kufor-Rakeb syndrome; spastic paraplegia type 78 | AR |
ATP1A3 | 182350 | Dystonia 12; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Alternating hemiplegia of childhood 2 | AD |
ATP2B3 | 300014 | spinocerebellar ataxia, X-linked 1 | XLR |
ATP8A2 | 605870 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | AR |
ATXN1 | 601556 | spinocerebellar ataxia 1 | AD |
ATXN10 | 611150 | spinocerebellar ataxia 10 | AD |
ATXN2 | 601517 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 2 | AD |
ATXN3 | 607047 | spinocerebellar ataxia 3 | AD |
ATXN7 | 607640 | spinocerebellar ataxia 7 | AD |
ATXN8OS | 603680 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 8 | AD |
B9D1 | 614144 | Meckel Syndrome, Type 9 | AR |
BBS1 | 209901 | Bardet-Biedl syndrome type 1 | AR, DiR |
BBS12 | 610683 | Bardet-Biedl syndrome type 12 | AR |
BEAN1 | 612051 | spinocerebellar ataxia 31 | AD |
BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy, progressive, with or without lipodystrophy | AD, AR |
BTD | 609019 | biotinidase deficiency | AR |
C12orf65 | 613541 | Combined oxidative phosphorylation deficiency 7 | AR |
C19orf12 | 614297 | neurodegeneration with brain iron accumulation 4; spastic paraplegia 43 | AD, AR |
CA8 | 114815 | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 | AR |
CACNA1A | 601011 | episodic ataxia type 2; familial hemiplegic migraine 1; spinocerebellar ataxia 6; early infantile epileptic encephalopathy, 42 | AD |
CACNB4 | 601949 | Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic ataxia, type 5 | AD |
CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
CASK | 300172 | Fg Syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD |
CC2D2A | 612013 | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 | AR |
CCDC88C | 611204 | Hydrocephalus, nonsyndromic, autosomal recessive 1; spinocerebellar ataxia type 40 | AD, AR |
CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
CEP41 | 610523 | Joubert syndrome 15 | AR |
CHMP1A | 164010 | pontocerebellar hypoplasia 8 | AR |
CLCN2 | 600570 | Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Leukoencephalopathy with ataxia | AD, AR |
CLN5 | 608102 | neuronal ceroid lipofuscinosis type 5 | AR |
CLN6 | 606725 | adulte onset neuronal ceroid lipofuscinosis, Kufs type; neuronal ceroid lipofuscinosis type 6 | AR |
CLPP | 601119 | Perrault syndrome 3 | AR |
COASY | 609855 | Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia type 12 | AR |
COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
COQ8A | 606980 | primary Coenzyme Q10 deficiency type 4 - COQ10D4 | AR |
COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
COX20 | 614698 | Mitochondrial complex IV deficiency | AR, M |
CP | 117700 | aceruloplasminemia | AR |
CPLANE1 | 614571 | oral-facial-digital syndrome 6; Joubert syndrome 17 | AR |
CSPP1 | 611654 | Joubert syndrome 21 | AR |
CWF19L1 | 616120 | autosomal recessive spinocerebellar ataxia 17 | AR |
CYP27A1 | 606530 | cerebrotendinous xanthomatosis | AR |
DARS2 | 610956 | leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
DNAJC19 | 608977 | 3-methylglutaconic aciduria, type 5 | AR |
DNAJC5 | 611203 | neuronal ceroid lipofuscinosis type 4, Parry type | AD |
DNMT1 | 126375 | cerebellar ataxia, deafness and narcolepsy; Neuropathy, hereditary sensory, type IE | AD |
EIF2B1 | 606686 | leukoencephaly with vanishing white matter | AR |
EIF2B2 | 606454 | leukoencephaly with vanishing white matter | AR |
EIF2B3 | 606273 | leukoencephaly with vanishing white matter | AR |
EIF2B4 | 606687 | leukoencephaly with vanishing white matter | AR |
EIF2B5 | 603945 | leukoencephaly with vanishing white matter | AR |
ELOVL4 | 605512 | Spinocerebellar ataxia 34; Stargardt disease 3; Ichthyosis, spastic quadriplegia, and mental retardation | AD, AR |
ELOVL5 | 611805 | spinocerebellar ataxia 38 | AD |
EXOSC3 | 606489 | pontocerebellar hypoplasia type 1B | AR |
FA2H | 611026 | spastic paraplegia 35 | AR |
FBXL4 | 605654 | mitochondrial DNA depletion syndrome 13 | AR |
FGF14 | 601515 | spinocerebellar ataxia 27 | AD |
FLVCR1 | 609144 | Ataxia, posterior column, with retinitis pigmentosa | AR |
FTL | 134790 | Hyperferritinemia With Or Without Cataract; neurodegeneration with brain iron accumulation 3 | AD, AR |
FXN | 606829 | Friedreich ataxia | AR |
GALC | 606890 | Krabbe disease | AR |
GBA | 606463 | Lewy body dementia; Susceptibility to late-onset Parkinson disease; Gaucher disease type 1; Gaucher disease type 2 (acute); Gaucher disease type 3 (subacute/ chronic); Gaucher disease, cardiovascular form; Gaucher disease, perinatal-lethal form | AD, AR |
GBA2 | 609471 | spastic paraplegia 46 | AR |
GFAP | 137780 | Alexander disease | AD |
GJB1 | 304040 | Charcot-Marie-Tooth disease type 1 | XLD |
GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2; spastic paraplegia 44 | AD, AR |
GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
GRID2 | 602368 | autosomal recessive spinocerebellar ataxia 18 | AR |
GRM1 | 604473 | autosomal recessive spinocerebellar ataxia 13; Spinocerebellar ataxia type 44 | AD, AR |
GSS | 601002 | Glutathione synthetase deficiency | AR |
HEPACAM | 611642 | megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts type 2B, remitting, with or without mental retardation | AD, AR |
HEXB | 606873 | Sandhoff disease | AR |
HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
INPP5E | 613037 | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
ITM2B | 603904 | Cerebral amyloid angiopathy, itm2b-related, 2; Cerebral amyloid angiopathy, itm2b-related, 1 | AD |
ITPR1 | 147265 | spinocerebellar ataxia 29; Gillespie syndrome; spinocerebellar ataxia 15 | AD, AR |
KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
KCNC3 | 176264 | spinocerebellar ataxia 13 | AD |
KCND3 | 605411 | spinocerebellar ataxia 19 | AD |
KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
KIF1A | 601255 | spastic paraplegia 30; Neuropathy, hereditary sensory, type IIC; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | AD, AR |
KIF1C | 603060 | Spastic ataxia 2, autosomal recessive | AR |
KIF5A | 602821 | spastic paraplegia 10; Neonatal intractable myoclonus | AD |
KIF7 | 611254 | Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 | AR |
LAMA1 | 150320 | Poretti-Boltshauser syndrome | AR |
LMNB1 | 150340 | Leukodystrophy, adult-onset, autosomal dominant | AD |
LRPPRC | 607544 | Leigh syndrome, French-Canadian type | AR |
MARS2 | 609728 | AR | |
MKS1 | 609883 | Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 | AR |
MLC1 | 605908 | megalencephalic leukoencephalopathy with subcortical cysts type 1 | AR |
MRE11 | 600814 | Ataxia-telangiectasia-like disorder type 1 | AR |
MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
MTPAP | 613669 | AR | |
MTTP | 157147 | Abetalipoproteinemia; protection against metabolic syndrome | AD, AR |
NDUFAF6 | 612392 | AR | |
NDUFS1 | 157655 | AR | |
NDUFS2 | 602985 | AR | |
NDUFS4 | 602694 | mitochondrial complex I deficiency | AR |
NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
NDUFV1 | 161015 | AR | |
NOP56 | 614154 | spinocerebellar ataxia 36 | AD |
NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
NUBPL | 613621 | AR | |
OFD1 | 300170 | Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 | XLD, XLR |
OPA1 | 605290 | Optic atrophy plus syndrome; optic atrophy type 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; Mitochondrial DNA depletion syndrome 14 | AD, AR |
OPA3 | 606580 | Optic atrophy type 3 with cataract; 3-methylglutaconic aciduria type III | AD, AR |
OPHN1 | 300127 | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | XLR |
PANK2 | 606157 | neurodegeneration with brain iron accumulation type 1; HARP syndrome | AR |
PAX6 | 607108 | Aniridia 1; foveal hypoplasia type 1 | AD |
PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
PDYN | 131340 | spinocerebellar ataxia 23 | AD |
PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
PHYH | 602026 | Refsum disease | AR |
PLA2G6 | 603604 | infantile neuroaxonal dystrophy; neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 | AR |
PLP1 | 300401 | Pelizaeus-Merzbacher disease; spastic paraplegia 2 | XLR |
PNKD | 609023 | dystonia 8 | AD |
PNKP | 605610 | type 2B2 Charcot-Marie-Tooth disease; early infantile epileptic encephalopathy 10 | AR |
PNPLA6 | 603197 | Boucher-Neuhauser syndrome; spastic paraplegia 39 | AR |
POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
POLR3A | 614258 | hypomyelinating leukodystrophy-7 | AR |
POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
PPP2R2B | 604325 | spinocerebellar ataxia 12 | AD |
PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
PRKCG | 176980 | spinocerebellar ataxia 14 | AD |
PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 | AD |
RARS2 | 611524 | pontocerebellar hypoplasia type 6 | AR |
RPGRIP1L | 610937 | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 | AR |
RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
RUBCN | 613516 | autosomal recessive spinocerebellar ataxia 15 | AR |
SACS | 604490 | spastic ataxia of Charlevoix-Saguenay | AR |
SCN2A | 182390 | benign familial neonatal-infantile seizures type 3; early infantile epileptic encephalopathy 11 | AD |
SETX | 608465 | amyotrophic lateral sclerosis 4; autosomal recessive spinocerebellar ataxia 1 | AD, AR |
SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
SLC17A5 | 604322 | infantile sialic acid storage disorder; Salla disease | AR |
SLC1A3 | 600111 | episodic ataxia type 6 | AD |
SLC20A2 | 158378 | Basal ganglia calcification, idiopathic, 1 | AD |
SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB | AR |
SLC2A1 | 138140 | Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12 | AD, AR |
SLC52A3 | 613350 | Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1 | AR |
SLC9A6 | 300231 | Christianson type of X-linked syndromic mental retardation | XLD |
SPG11 | 610844 | Amyotrophic lateral sclerosis 5, juvenile; spastic paraplegia type 11; Charcot-Marie-Tooth disease, axonal, type 2X | AR |
SPG7 | 602783 | spastic paraplegia 7 | AD, AR |
SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
SPTBN2 | 604985 | spinocerebellar ataxia 5; autosomal recessive spinocerebellar ataxia 14 | AD, AR |
STUB1 | 607207 | autosomal recessive spinocerebellar ataxia 16; ?Spinocerebellar ataxia 48 | AD, AR |
SYNE1 | 608441 | autosomal recessive spinocerebellar ataxia 8; Emery-Dreifuss muscular dystrophy 4 | AD, AR |
TBP | 600075 | Susceptibility to late-onset Parkinson disease; spinocerebellar ataxia 17 | AD |
TCTN2 | 613846 | Meckel syndrome 8; Joubert syndrome type 24 | AR |
TGM6 | 613900 | spinocerebellar ataxia 35 | AD |
TMEM216 | 613277 | Meckel Syndrome type 2; Joubert syndrome type 2 | AR |
TMEM237 | 614423 | Joubert syndrome 14 | AR |
TMEM240 | 616101 | spinocerebellar ataxia 21 | AD |
TMEM67 | 609884 | COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 | AR |
TPP1 | 607998 | neuronal ceroid lipofuscinosis type 2; autosomal recessive spinocerebellar ataxia type 7 | AR |
TSEN2 | 608753 | pontocerebellar hypoplasia type 2B | AR |
TSEN34 | 608754 | pontocerebellar hypoplasia type 2C | AR |
TSEN54 | 608755 | pontocerebellar hypoplasia type 4; pontocerebellar hypoplasia type 2A; pontocerebellar hypoplasia type 5 | AR |
TTBK2 | 611695 | spinocerebellar ataxia 11 | AD |
TTC19 | 613814 | nuclear mitochondrial complex III deficiency type 2 | AR |
TTPA | 600415 | ataxia with vitamin E deficiency | AR |
TUBB4A | 602662 | dystonia 4; hypomyelinating leukodystrophy-6 | AD |
TWNK | 606075 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Progressive external ophthalmoplegia, autosomal dominant, 3 | AD, AR |
UBA5 | 610552 | early infantile epileptic encephalopathy, 44 | AR |
VAMP1 | 185880 | Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25 | AD, AR |
VLDLR | 192977 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome | AR |
VRK1 | 602168 | pontocerebellar hypoplasia type 1A | AR |
WDR81 | 614218 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR |
WFS1 | 606201 | congenital nuclear cataract type 41; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Wolfram syndrome; Deafness, autosomal dominant 6/14/38; Wolfram-like syndrome | AD, AR |
WWOX | 605131 | Esophageal cancer, somatic; autosomal recessive spinocerebellar ataxia 12; early infantile epileptic encephalopathy 28 | AR |
ZFYVE26 | 612012 | spastic paraplegia type 15 | AR |