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)
309,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS + [X]
[[Sanger]]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ATM | 9171 | AD und/oder AR und/oder SMu und/oder Sus | |
CYP27A1 | 1596 | AR | |
FXN | 633 | AR und/oder Ass | |
NPC1 | 3837 | AR | |
NPC2 | 456 | AR | |
PEX7 | 972 | AR | |
PHYH | 1017 | AR | |
POLG | 3720 | AD und/oder AR | |
SACS | 13740 | AR | |
SPG7 | 2388 | AD und/oder AR | |
SYNE1 | 26250 | AD und/oder AR | |
TTPA | 837 | AR | |
AAAS | 1641 | AR | |
ABHD12 | 1197 | AR | |
ACO2 | 2343 | AR | |
ADGRG1 | 2064 | AR | |
AFG3L2 | 2394 | AD und/oder AR | |
AMPD2 | 2478 | AR | |
ANO10 | 1983 | AR | |
APTX | 1029 | AR | |
ARSA | 1530 | AR | |
ATCAY | 1116 | AR | |
ATP8A2 | 3567 | AR | |
B3GALNT2 | 1503 | AR | |
CA8 | 873 | AR | |
CAPN1 | 2145 | AR | |
CHMP1A | 591 | AR | |
CLCN2 | 2697 | AD und/oder AR | |
CLN5 | 1077 | AR | |
CLN6 | 936 | AR | |
COA7 | 699 | AR | |
COQ8A | 1944 | AR | |
COX20 | 357 | AR und/oder Mi | |
CP | 3198 | AR | |
CRPPA | 1356 | AR | |
CWF19L1 | 1617 | AR | |
CYP2U1 | 1635 | AR | |
DARS2 | 1938 | AR | |
DDHD2 | 2136 | AR | |
DNAJC19 | 351 | AR | |
EIF2B1 | 918 | AR | |
EIF2B2 | 1056 | AR | |
EIF2B3 | 1359 | AR | |
EIF2B4 | 1569 | AR | |
EIF2B5 | 2166 | AR | |
EPM2A | 996 | AR | |
EXOSC3 | 828 | AR | |
FKRP | 1488 | AR | |
FKTN | 1386 | AR | |
FLVCR1 | 1668 | AR | |
FOLR1 | 774 | AR | |
GBA2 | 2784 | AR | |
GDAP2 | 1757 | AR | |
GJC2 | 1320 | AD und/oder AR | |
GMPPB | 1164 | AR | |
GOSR2 | 639 | AR | |
GRID2 | 3024 | AR | |
GRM1 | 3585 | AD und/oder AR | |
HEXA | 1590 | AR | |
HEXB | 1671 | AR | |
ITPR1 | 8088 | AD und/oder AR | |
KCNJ10 | 1140 | AR und/oder Dig | |
KIF1C | 3312 | AR | |
LAMA1 | 9228 | AR und/oder Dig | |
MARS2 | 1782 | AR | |
MMACHC | 849 | AR | |
MTCL1 | 4996 | AR | |
MTTP | 2685 | AD und/oder AR | |
NHLRC1 | 1188 | AR | |
OPA3 | 540 | AD und/oder AR | |
PEX16 | 1011 | AR | |
PLA2G6 | 2421 | AR | |
PMPCA | 1875 | AR | |
PNKP | 1566 | AR | |
PNPLA6 | 3984 | AR | |
POLR3A | 4173 | AR | |
POLR3B | 3402 | AR | |
POMGNT1 | 1983 | AR | |
POMGNT2 | 1743 | AR | |
POMT1 | 2244 | AR | |
POMT2 | 2253 | AR | |
PTF1A | 987 | AR | |
RARS2 | 1737 | AR | |
RELN | 10383 | AD und/oder AR | |
RNF216 | 2772 | AR | |
ROBO3 | 4161 | AR | |
RUBCN | 2784 | AR | |
SAR1B | 597 | AR | |
SCYL1 | 2642 | AR | |
SETX | 8034 | AD und/oder AR | |
SIL1 | 1386 | AR | |
SLC25A46 | 1257 | AR | |
SLC2A1 | 1479 | AD und/oder AR | |
SLC52A2 | 1338 | AR | |
SLC9A1 | 2448 | AR | |
SNX14 | 2841 | AR | |
SPTBN2 | 7173 | AD und/oder AR | |
SQSTM1 | 1323 | AD und/oder AR | |
SRD5A3 | 957 | AR | |
STUB1 | 912 | AD und/oder AR | |
SYT14 | 1860 | AR | |
TDP1 | 1827 | AR | |
TDP2 | 1089 | AR | |
THG1L | 909 | AR | |
TPP1 | 1692 | AR | |
TSEN2 | 1398 | AR | |
TSEN34 | 933 | AR | |
TSEN54 | 1581 | AR | |
TSFM | 1041 | AR | |
TTC19 | 822 | AR | |
TWNK | 2055 | AD und/oder AR | |
TXN2 | 501 | AR | |
UBA5 | 1255 | AR | |
VLDLR | 2622 | AR | |
VPS13D | 13236 | AR | |
VRK1 | 1191 | AR | |
VWA3B | 3885 | AR | |
WDR73 | 1137 | AR | |
WDR81 | 5826 | AR | |
WFS1 | 2673 | AD und/oder AR | |
WWOX | 1245 | AR | |
XRCC1 | 1902 | AR |
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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