IllnessSpastische Paraplegie und Differentialdiagnosen, großes Panel

Summary

Short information

Comprehensive differential diagnostic panel for spastic paraplegia with 10 core genes and 110 other genes including important differential diagnoses. Except for the FXN gene, repeat-expansion-diseases are not included here and should be requested separately if they are suspected (e.g. spinocerebellar ataxias).

SP8520

Number of genes

121 Accredited laboratory test

Examined sequence length

34,4 kb (Core-/Core-canditate-Genes)
265,6 kb (Extended panel: incl. additional genes)

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
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	XL
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	No OMIM-Gs linked	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

Informations about the disease

Clinical Comment

Hereditary spastic paraplegias (HSP) comprise a heterogeneous group of rare monogenic neurological disorders caused by length-dependent degeneration of the corticospinal tract and posterior columns of the spinal cord. The core symptoms are bilateral spasticity and hyperreflexia with pyramidal tract signs of the lower extremities and hyperactive urinary bladder. HSPs are clinically classified according to the mode of inheritance (mostly AD, more rarely AR/XL/mitochondrial), the age at first manifestation (infancy, childhood, adolescence or adulthood) and the type of course (uncomplicated= above-mentioned symptoms/ complicated= further neurological/neuropsychological manifestations). In complicated courses of HSP, cognitive impairments, extrapyramidal movement disorders, coordination disorders, dysarthria, neuropathy or epileptic seizures may occur as additional symptoms. An inconspicuous genetic finding still does not mean a reliable exclusion of the suspected clinical diagnosis. Reference: https://www.ncbi.nlm.nih.gov/books/NBK1509/

Synonyms

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

Heredity, heredity patterns etc.

OMIM-Ps

No OMIM-Ps linked

ICD10 Code

Bioinformatics and clinical interpretation

No text defined