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ErkrankungSpinozerebelläre Ataxie, autosomal rezessiv; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Spinozerebelläre Ataxie, autosomal rezessiv, mit 8 Leitlinien-kuratierten bzw. zusammen genommen 123 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
SP9759
Anzahl Gene
122 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
64,7 kb (Core-/Basis-Gene)
309,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS + [X]

[[Sanger]]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ATM9171AD und/oder AR und/oder SMu und/oder Sus
CYP27A11596AR
FXN633AR und/oder Ass
NPC13837AR
NPC2456AR
PEX7972AR
PHYH1017AR
POLG3720AD und/oder AR
SACS13740AR
SPG72388AD und/oder AR
SYNE126250AD und/oder AR
TTPA837AR
AAAS1641AR
ABHD121197AR
ACO22343AR
ADGRG12064AR
AFG3L22394AD und/oder AR
AMPD22478AR
ANO101983AR
APTX1029AR
ARSA1530AR
ATCAY1116AR
ATP8A23567AR
B3GALNT21503AR
CA8873AR
CAPN12145AR
CHMP1A591AR
CLCN22697AD und/oder AR
CLN51077AR
CLN6936AR
COA7699AR
COQ8A1944AR
COX20357AR und/oder Mi
CP3198AR
CRPPA1356AR
CWF19L11617AR
CYP2U11635AR
DARS21938AR
DDHD22136AR
DNAJC19351AR
EIF2B1918AR
EIF2B21056AR
EIF2B31359AR
EIF2B41569AR
EIF2B52166AR
EPM2A996AR
EXOSC3828AR
FKRP1488AR
FKTN1386AR
FLVCR11668AR
FOLR1774AR
GBA22784AR
GDAP21757AR
GJC21320AD und/oder AR
GMPPB1164AR
GOSR2639AR
GRID23024AR
GRM13585AD und/oder AR
HEXA1590AR
HEXB1671AR
ITPR18088AD und/oder AR
KCNJ101140AR und/oder Dig
KIF1C3312AR
LAMA19228AR und/oder Dig
MARS21782AR
MMACHC849AR
MTCL14996AR
MTTP2685AD und/oder AR
NHLRC11188AR
OPA3540AD und/oder AR
PEX161011AR
PLA2G62421AR
PMPCA1875AR
PNKP1566AR
PNPLA63984AR
POLR3A4173AR
POLR3B3402AR
POMGNT11983AR
POMGNT21743AR
POMT12244AR
POMT22253AR
PTF1A987AR
RARS21737AR
RELN10383AD und/oder AR
RNF2162772AR
ROBO34161AR
RUBCN2784AR
SAR1B597AR
SCYL12642AR
SETX8034AD und/oder AR
SIL11386AR
SLC25A461257AR
SLC2A11479AD und/oder AR
SLC52A21338AR
SLC9A12448AR
SNX142841AR
SPTBN27173AD und/oder AR
SQSTM11323AD und/oder AR
SRD5A3957AR
STUB1912AD und/oder AR
SYT141860AR
TDP11827AR
TDP21089AR
THG1L909AR
TPP11692AR
TSEN21398AR
TSEN34933AR
TSEN541581AR
TSFM1041AR
TTC19822AR
TWNK2055AD und/oder AR
TXN2501AR
UBA51255AR
VLDLR2622AR
VPS13D13236AR
VRK11191AR
VWA3B3885AR
WDR731137AR
WDR815826AR
WFS12673AD und/oder AR
WWOX1245AR
XRCC11902AR

Infos zur Erkrankung

Klinischer Kommentar

Große Erkrankungsgruppe - keine ORPHA#

 

Synonyme
  • Alias: AR Ataxia with cerebellar anomalies
  • Alias: Cerebellar ataxia, AR
  • Alias: SCA, autosomal recessive
  • Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Laurence-Moon syndrome (PNPLA6)
  • Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
  • Allelic: Lymphoma, mantle cell, somatic (ATM)
  • Allelic: Oliver-McFarlane syndrome (PNPLA6)
  • Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Allelic: Spastic paraplegia 39, AR (PNPLA6)
  • Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
  • 3-methylglutaconic aciduria, type III (OPA3)
  • 3-methylglutaconic aciduria, type V (DNAJC19)
  • Abetalipoproteinemia (MTTP)
  • Achalasia-addisonianism-alacrimia syndrome (AAAS)
  • Allelic: Developmental + epileptic encephalopathy 44 (UBA5)
  • Allelic: Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Allelic: Hypoceruloplasminemia, hereditary (CP)
  • Allelic: Optic atrophy 12 (AFG3L2)
  • Allelic: Spinocerebellar ataxia 15 (ITPR1)
  • Allelic: Spinocerebellar ataxia 28 (AFG3L2)
  • Allelic: Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
  • Ataxia with isolated vitamin E deficiency (TTPA)
  • Ataxia, cerebellar, Cayman type (ADCAY)
  • Ataxia, early-onset, with oculomotor apraxia + hypoalbuminemia (APTX)
  • Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
  • Ataxia-oculomotor apraxia 4 (PNKP)
  • Ataxia-telangiectasia (ATM)
  • Boucher-Neuhauser syndrome (PNPLA6)
  • Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
  • Cerebellar ataxia (CP)
  • Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
  • Cerebellar ataxia + mental retardation with/-out quadrupedal locomotion 3 (CA8)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 2 (WDR81)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 4 (ATP8A2)
  • Cerebellar ataxia, neuropathy + vestibular areflexia syndrome (RFC1)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Chylomicron retention disease (SAR1B)
  • Coenzyme Q10 deficiency, primary, 4 (COQ8A)
  • Combined oxidative phosphorylation deficiency 29 (TXN2)
  • Combined oxidative phosphorylation deficiency 3 (TSFM)
  • Congenital disorder of glycosylation, type Iq (SRD5A3)
  • Epilepsy, progressive myoclonic 2A [Lafora] (EPM2A)
  • Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
  • Epilepsy, progressive myoclonic 6 (GOSR2)
  • GLUT1 deficiency syndrome 1, infantile onset, severe; + 2Childhood onset (SLC2A1)
  • GM2-gangliosidosis, several forms (HEXA)
  • Galloway-Mowat syndrome 1 (WDR73)
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
  • Gillespie syndrome (ITPR1)
  • Infantile cerebellar-retinal degeneration (ACO2)
  • Kahrizi syndrome (SRD5A3)
  • Leukodystrophy, hypomyelinating, 7, with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
  • Leukodystrophy, hypomyelinating, 8, with/-out oligodontia +/- hypogonadotropic hypogonadism (POLR3B)
  • Leukoencephalopathy with ataxia (CLCN2)
  • Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation DARS2)
  • Leukoencephalopathy with vanishing white matter (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5)
  • Lichtenstein-Knorr syndrome (SLC9A1)
  • Lissencephaly 2 [Norman-Roberts type] (RELN)
  • Marinesco-Sjogren syndrome (SIL1)
  • Metachromatic leukodystrophy (ARSA)
  • Methylmalonic aciduria and homocystinuria, cblC type (MMACHC)
  • Mitochondrial Ar ataxia syndrome [includes SANDO + SCAE] (POLG)
  • Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
  • Mitochondrial complex III deficiency, nuclear type 2 (TTC19)
  • Mitochondrial complex IV deficiency (COX20)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 7 (CRPPA)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies, type A, 8 (POMGNT2)
  • NOR polyagglutination syndrome (A4GALT)
  • Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
  • Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neuropathy, hereditary motor and sensory, type VIB (SLC25A46)
  • Niemann-Pick disease, type C1 (NPC1)
  • Niemann-pick disease, type C2 (NPC2)
  • Pancreatic and cerebellar agenesis (PTF1A)
  • Peroxisome biogenesis disorder 8A (Zellweger) + 8B (PEX16)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Polymicrogyria, bilateral frontoparietal (ADGRG1)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (ABHD12)
  • Pontocerebellar hypoplasia type 1A (VRK1)
  • Pontocerebellar hypoplasia type 2A, 4, 5 (TSEN54)
  • Pontocerebellar hypoplasia type 2B (TSEN2)
  • Pontocerebellar hypoplasia type 2C (TSEN34)
  • Pontocerebellar hypoplasia, type 1B (EXOSC3)
  • Pontocerebellar hypoplasia, type 6 (RARS2)
  • Pontocerebellar hypoplasia, type 8 (CHMP1A)
  • Pontocerebellar hypoplasia, type 9 (AMPD2)
  • Poretti-Boltshauser syndrome (LAMA1)
  • Refsum disease (PHYH)
  • SESAME syndrome (KCNJ10)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Spastic ataxia 2, AR (KIF1C)
  • Spastic ataxia 3, AR (MARS2)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic ataxia, Charlevoix-Saguenay type (SACS)
  • Spastic paraplegia 44, AR (GJC2)
  • Spastic paraplegia 46, Ar (GBA2)
  • Spastic paraplegia 54, AR (DDHD2)
  • Spastic paraplegia 56, AR (CYP2U1)
  • Spastic paraplegia 7, AR (SPG7)
  • Spastic paraplegia 76, AR (CAPB1)
  • Spinocerebellar ataxia [panelapp] (MTCL1)
  • Spinocerebellar ataxia, AR 10 (ANO10)
  • Spinocerebellar ataxia, AR 11 (SYT14)
  • Spinocerebellar ataxia, AR 12 (WWOX)
  • Spinocerebellar ataxia, AR 13 (GRM1)
  • Spinocerebellar ataxia, AR 14 (SPTBN2)
  • Spinocerebellar ataxia, AR 15 (RUBCN)
  • Spinocerebellar ataxia, AR 16 (STUB1)
  • Spinocerebellar ataxia, AR 17 (CWF19L1)
  • Spinocerebellar ataxia, AR 18 (GRID2)
  • Spinocerebellar ataxia, AR 2 (PMPCA)
  • Spinocerebellar ataxia, AR 20 (SNX14)
  • Spinocerebellar ataxia, AR 21 (SCYL1)
  • Spinocerebellar ataxia, AR 22 (VWA3B)
  • Spinocerebellar ataxia, AR 23 (TDP2)
  • Spinocerebellar ataxia, AR 24 (UBA5)
  • Spinocerebellar ataxia, AR 25 (ATG5)
  • Spinocerebellar ataxia, AR 26 (XRCC1)
  • Spinocerebellar ataxia, AR 27 (GDAP2)
  • Spinocerebellar ataxia, AR 28 (THG1L)
  • Spinocerebellar ataxia, AR 29 (VPS41)
  • Spinocerebellar ataxia, AR 30 (PITRM1)
  • Spinocerebellar ataxia, AR 4 (VPS13D)
  • Spinocerebellar ataxia, AR 7 (TPP1)
  • Spinocerebellar ataxia, AR 8 (SYNE1)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 1 (TDP1)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 3 (COA7)
  • Tay-Sachs disease (HEXA)
  • Wolfram syndrome 1 (WFS1)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AD und/oder AR und/oder SMu und/oder Sus
  • AR
  • AR und/oder Ass
  • AR und/oder Dig
  • AR und/oder Mi
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G11.-

Bioinformatik und klinische Interpretation

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