Klinische FragestellungSpastische Paraplegie und Differentialdiagnosen, großes Panel

Zusammenfassung

Kurzinformation

SP8520_KI

SP8520

Anzahl Loci

Loci-Typ	Anzahl
Gen	121

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

34,4 kb (Core-/Core-canditate-Gene)
265,6 kb (Erweitertes Panel: inkl. additional genes)

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

SP8520_DH

Locipanel

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
ATL1	1677	606439	NM_015915.5	AD
KIF1A	5073	601255	NM_004321.8	AD, AR
KIF5A	3099	602821	NM_004984.4	AD, AR
NIPA1	990	608145	NM_144599.5	AD
PLP1	834	300401	NM_000533.5	AD
SPAST	1851	604277	NM_014946.4	AD
SPG11	7332	610844	NM_025137.4	AD
SPG7	2388	602783	NM_003119.4	AD, AR
WASHC5	3480	610657	NM_014846.4	AD
ZFYVE26	7620	612012	NM_015346.4	AR
ABCD1	2238	300371	NM_000033.4	XL
ABHD16A	1855	142620	NM_001177515.2	AR
ACER3	894	617036	NM_018367.7	AR
ADAR	2796	146920	NM_001111.5	AD, AR
AFG2B	2262	619578	NM_024063.3	AR
AFG3L2	2394	604581	NM_006796.3	AD, AR
AIMP1	939	603605	NM_004757.4	AR
ALDH18A1	2388	138250	NM_002860.4	AD, AR
ALDH3A2	1458	609523	NM_000382.3	AR
ALS2	4974	606352	NM_020919.4	AR
AMFR	2043	603243	NM_001144.6	AR
AP4B1	2220	607245	NM_006594.5	AR
AP4E1	3414	607244	NM_007347.5	AR
AP4M1	1362	602296	NM_004722.4	AR
AP4S1	480	607243	NM_007077.5	AR
AP5Z1	2424	613653	NM_014855.3	AR
ARL6IP1	612	607669	NM_015161.3	AR
ATAD3A	1761	612316	NM_001170535.3	AD, AR
ATP13A2	3543	610513	NM_022089.4	AR
B4GALNT1	1437	601873	NM_001276468.2	AR
BCAS3	3520	607470	NM_001099432.3	AR
BICD2	2568	609797	NM_001003800.2	AD, AR
BSCL2	1197	606158	NM_032667.6	AD
C19orf12	459	614297	NM_001031726.3	AD, AR
CAPN1	2145	114220	NM_001198868.2	AR
COQ4	798	612898	NM_016035.5	AR
CPT1C	2379	608846	NM_001136052.3	AD
CTNNB1	2346	116806	NM_001904.4	AD
CYP27A1	1596	606530	NM_000784.4	AR
CYP2U1	1635	610670	NM_183075.3	AR
CYP7B1	1521	603711	NM_004820.5	AR
DARS1	1506	603084	NM_001349.4	AR
DDHD1	2640	614603	NM_001160147.2	AR
DDHD2	2136	615003	NM_015214.3	AR
DDX3X	1986	300160	NM_001193416.3	XL
DEGS1	1018	615843	NM_003676.4	AR
DSTYK	2790	612666	NM_015375.3	AR
ELOVL1	847	611813	NM_001256399.2	AD
ENTPD1	1554	601752	NM_001098175.2	AR
ERLIN1	1047	611604	NM_006459.4	AR
ERLIN2	1020	611605	NM_007175.8	AD, AR
FA2H	1119	611026	NM_024306.5	AR
FAR1	1548	616107	NM_032228.6	AD, AR
FARS2	1356	611592	NM_006567.5	AR
FBXO7	1332	605648	NM_001033024.2	AR
FXN	633	606829	NM_000144.5	AR
GALC	2058	606890	NM_000153.4	AR
GBA2	2784	609471	NM_020944.3	AR
GBE1	2109	607839	NM_000158.4	AR
GCH1	753	600225	NM_000161.3	AD, AR
GJA1	1149	121014	NM_000165.5	AD, AR
GJC2	1320	608803	NM_020435.4	AR
GLRX5	474	609588	NM_016417.3	AR
GPT2	1572	138210	NM_133443.4	AR
HACE1	2730	610876	NM_020771.4	AR
HECTD4	13185	620209	NM_001109662.4	AR
HIKESHI	647	614908	NM_016401.4	AR
HPDL	1117	618994	NM_032756.4	AR
HSPD1	1722	118190	NM_002156.5	AD
IFIH1	3078	606951	NM_022168.4	AD
KCNA2	1500	176262	NM_004974.4	AD
KDM5C	4683	314690	NM_004187.5	XL
KIDINS220	5431	615759	NM_020738.4	AD
KIF1C	3312	603060	NM_006612.6	AR
KPNA3	1583	601892	NM_002267.4	AD
L1CAM	3774	308840	NM_000425.5	XL
MAG	1806	159460	NM_001199216.2	AR
MAPK8IP3	4339	605431	NM_001040439.2	AD
MARS1	2703	156560	NM_004990.3	AR
MARS2	1782	609728	NM_138395.4	AR
MTPAP	1749	613669	NM_018109.4	AR
MTRFR	501	613541	NM_152269.5	AR
NDUFA12	438	614530	NM_018838.5	AR
NKX6-2	837	605955	NM_177400.3	AR
NSRP1	1995	616173	NM_001261467.2	AR
NT5C2	1686	600417	NM_001134373.3	AR
OPA3	540	606580	NM_025136.4	AR
PCYT2	1269	602679	NM_001184917.3	AR
PNPLA6	3984	603197	NM_006702.5	AR
POLR3A	4173	614258	NM_007055.4	AR
PRNP	762	176640	NM_000311.5	AD
PSEN1	1404	104311	NM_000021.4	AD
RAB3GAP2	4182	609275	NM_012414.4	AR
REEP1	606	609139	NM_022912.3	AR
REEP2	765	609347	NM_001271803.2	AD, AR
RNASEH2B	939	610326	NM_024570.4	AR
RNF170	777	614649	NM_001160223.2	AR
RTN2	1638	603183	NM_005619.5	AD
SACS	13740	604490	NM_014363.6	AR
SELENOI	1146	607915	NM_033505.4	AR
SERAC1	1965	614725	NM_032861.4	AR
SLC16A2	1620	300095	NM_006517.5	XL
SLC1A4	1607	600229	NM_003038.5	AR
SLC25A15	906	603861	NM_014252.4	AR
SLC2A1	1479	Keine OMIM-Gs verknüpft	NM_006516.4	AD, AR
SPART	2001	607111	NM_015087.5	AR
SPG21	927	608181	NM_016630.7	AR
SPTAN1	7434	182810	NM_001130438.3	AD
SPTSSA	218	613540	NM_138288.4	AD, AR
STN1	1221	613128	NM_024928.5	AR
TAF8	1109	609514	NM_138572.3	AR
TECPR2	3804	615000	NM_001172631.3	AR
TFG	1203	602498	NM_006070.6	AR
TMEM63C	2456	619953	NM_020431.4	AR
TNR	4077	601995	NM_003285.3	AR
TUBB4A	1335	602662	NM_006087.4	AD
UBAP1	1966	609787	NM_001171201.1	AD
UCHL1	672	191342	NM_004181.5	AD, AR
VAMP1	357	185880	NM_014231.5	AD
WDR45B	1035	609226	NM_019613.4	AR

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_SP8520

Synonyme

HSP
Hereditary spastic paraplegia
Hereditäre spastische Paraparese
Hereditäre spastische Paraplegie
Hereditäre spastische Spinalparalyse
Spastische Paraparese
Spastische Spinalparalyse
Strümpell-Lorrain-Krankheit

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Keine OMIM-Ps verknüpft

ICD10 Code

Bioinformatik und klinische Interpretation

Kein Text hinterlegt