Klinische FragestellungAtaxien, hereditäre

Zusammenfassung

Kurzinformation

AP0018_KI

AP0018

Anzahl Loci

Loci-Typ	Anzahl
Gen	172

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

111,6 kb (Core-/Core-canditate-Gene)
436,8 kb (Erweitertes Panel: inkl. additional genes)

Untersuchungsmaterial

EDTA-Blut (7,5-9 ml)

Diagnostische Hinweise

AP0018_DH

Locipanel

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
AFG3L2	2394	604581	NM_006796.3	AD
ANO10	1983	613726	NM_018075.5	AR
APTX	1029	606350	NM_175073.3	AR
ATM	9171	607585	NM_000051.4	AR
ATXN1	2448	601556	NM_000332.3	AD
ATXN2	3462	601517	NM_002973.4	AD
ATXN3	1086	607047	NM_004993.6	AD
ATXN7	2679	607640	NM_000333.4	AD
ATXN8	0	603680 613289		AD
CACNA1A	6786	601011	NM_001127221.2	AD
FGF14	744	601515	NM_004115.4	AD
FXN	633	606829	NM_000144.5	AR
ITPR1	8088	147265	NM_002222.7	AD
KCNC3	2274	176264	NM_004977.3	AD
KCND3	1968	605411	NM_004980.5	AD
POLG	3720	174763	NM_002693.3	AD
PRKCG	2094	176980	NM_002739.5	AD
RFC1	3447	102579	NM_001204747.2	AR
SACS	13740	604490	NM_014363.6	AR
SETX	8034	608465	NM_015046.7	AD
SPG7	2388	602783	NM_003119.4	AD
SPTBN2	7173	604985	NM_006946.4	AD
SYNE1	26250	608441	NM_033071.4	AD
AAAS	1641	605378	NM_015665.6	AR
ABCB7	2259	300135	NM_004299.6	XLR
ABHD12	1197	613599	NM_001042472.3	AR
ADCY5	3786	600293	NM_183357.3	AD
ADPRS	1098	610624	NM_017825.3	AR
APOB	13692	107730	NM_000384.3	AR
ARMC9	3275	617612	NM_025139.6	AR
ATCAY	1116	608179	NM_033064.5	AR
ATG7	2031	608760	NM_001136031.3	AR
ATP1A3	3042	182350	NM_152296.5	AD
ATP8A2	3567	605870	NM_016529.6	AR
AUH	1020	600529	NM_001698.3	AR
B4GALNT1	1437	601873	NM_001276468.2	AR
B9D2	528	611951	NM_030578.4	AR
CA8	873	114815	NM_004056.6	AR
CACNA1G	6945	604065	NM_018896.5	AD
CACNA2D2	3438	607082	NM_001005505.3	AR
CACNB4	1563	601949	NM_000726.5	AD
CAMTA1	5022	611501	NM_015215.4	AD
CAPN1	2145	114220	NM_001198868.2	AR
CLCN2	2697	600570	NM_004366.6	AR
CLN6	936	606725	NM_017882.3	AR
COA7	699	615623	NM_023077.3	AR
COASY	1695	609855	NM_025233.7	AR
COG5	2472	606821	NM_001161520.2	AR
COQ4	798	612898	NM_016035.5	AR
COQ8A	1944	606980	NM_020247.5	AR
COX20	357	614698	NM_198076.6	AR
CP	3198	117700	NM_000096.4	AR
CTBP1	1900	602618	NM_001328.3	AD
CWF19L1	1617	616120	NM_018294.6	AR
CYP27A1	1596	606530	NM_000784.4	AR
CYP2U1	1635	610670	NM_183075.3	AR
DARS2	1938	610956	NM_018122.5	AR
DDHD2	2136	615003	NM_015214.3	AR
DNAJC19	351	608977	NM_145261.4	AR
DNAJC5	597	611203	NM_025219.3	AR
DNMT1	4899	126375	NM_001130823.3	AD
EEF2	2577	130610	NM_001961.4	AD
EIF2B1	918	606686	NM_001414.4	AR
EIF2B2	1056	606454	NM_014239.4	AR
EIF2B3	1359	606273	NM_020365.5	AR
EIF2B4	1569	606687	NM_015636.4	AR
EIF2B5	2166	603945	NM_003907.3	AR
ELOVL4	945	605512	NM_022726.4	AD
ELOVL5	900	611805	NM_021814.5	AD
ERCC4	2751	133520	NM_005236.3	AR
EXOSC3	828	606489	NM_016042.4	AR
EXOSC5	708	606492	NM_020158.4	AR
FA2H	1119	611026	NM_024306.5	AR
FAT2	13050	604269	NM_001447.3	AD
FLVCR1	1668	609144	NM_014053.4	AR
FMR1	1899	309550	NM_002024.6	XLD
FOLR1	774	136430	NM_016725.3	AR
GALC	2058	606890	NM_000153.4	AR
GBA2	2784	609471	NM_020944.3	AR
GDAP2	1757	618128	NM_001135589.3	AR
GFAP	1299	137780	NM_002055.5	AD
GJC2	1320	608803	NM_020435.4	AR
GOSR2	639	604027	NM_004287.5	AR
GPAA1	1878	603048	NM_003801.4	AR
GRID2	3024	602368	NM_001510.4	AR
GRM1	3585	604473	NM_001278064.2	AD
HEPACAM	1251	611642	NM_152722.5	AD
HEXA	1590	606869	NM_000520.6	AR
HEXB	1671	606873	NM_000521.4	AR
IRF2BPL	2411	611720	NM_024496.4	AD
KCNA1	1488	176260	NM_000217.3	AD
KCNA2	1500	176262	NM_004974.4	AD
KCNJ10	1140	602208	NM_002241.5	AR
KCNN2	696	605879	NM_001278204.2	AD
KIF1C	3312	603060	NM_006612.6	AR
LAMA1	9228	150320	NM_005559.4	AR
MARS2	1782	609728	NM_138395.4	AR
MFN2	2274	608507	NM_014874.4	AR
MRE11	2127	600814	NM_005591.4	AR
MTPAP	1749	613669	NM_018109.4	AR
MTTP	2685	157147	NM_000253.4	AR
MVK	1191	251170	NM_000431.4	AR
NKX2-1	1206	600635	NM_001079668.3	AD
NKX6-2	837	605955	NM_177400.3	AR
NPC1	3837	607623	NM_000271.5	AR
NPC2	456	601015	NM_006432.5	AR
NPTX1	1304	602367	NM_002522.4	AD
OGDHL	3055	617513	NM_001143996.2	AR
OPA1	2883	605290	NM_015560.3	AD
OPA3	540	606580	NM_025136.4	AR
PDYN	765	131340	NM_024411.5	AD
PEX16	1011	603360	NM_004813.4	AR
PEX2	918	170993	NM_000318.3	AR
PEX6	2943	601498	NM_000287.4	AD
PEX7	972	601757	NM_000288.4	AR
PHYH	1017	602026	NM_006214.4	AR
PIK3R5	2643	611317	NM_001142633.3	AR
PITRM1	3205	618211	NM_001242309.1	AR
PLA2G6	2421	603604	NM_003560.4	AR
PMPCA	1875	613036	NM_015160.3	AR
PMPCB	1551	603131	NM_004279.3	AR
PNKP	1566	605610	NM_007254.4	AR
PNPLA6	3984	603197	NM_006702.5	AR
PNPT1	2352	610316	NM_033109.5	AD
POLR3A	4173	614258	NM_007055.4	AR
POLR3B	3402	614366	NM_018082.6	AD
POU4F1	1262	Keine OMIM-Gs verknüpft	NM_006237.4	AD
PRDX3	778	604769	NM_006793.5	AD
PRICKLE1	2496	608500	NM_153026.3	AR
PRNP	762	176640	NM_000311.5	AD
PRRT2	1023	614386	NM_145239.3	AD
PTRH2	540	608625	NM_016077.5	AR
PUM1	3602	607204	NM_001020658.2	AD
RARS2	1737	611524	NM_020320.5	AR
RNF170	777	614649	NM_001160223.2	AD
RNF216	2772	609948	NM_207111.4	AR
RNF220	1979	616136	NM_018150.4	AR
SAMD9L	4756	611170	NM_152703.5	AD
SCN2A	6018	182390	NM_021007.3	AD
SCN8A	5943	600702	NM_014191.4	AD
SCYL1	2642	607982	NM_001048218.2	AR
SIL1	1386	608005	NM_022464.5	AR
SLC1A3	1629	600111	NM_004172.5	AD
SLC2A1	1479	Keine OMIM-Gs verknüpft	NM_006516.4	AD
SLC44A1	2345	606105	NM_080546.5	AR
SLC52A2	1338	607882	NM_024531.5	AR
SLC9A1	2448	107310	NM_003047.5	AR
SNX14	2841	616105	NM_153816.6	AR
SPR	786	182125	NM_003124.5	AD
SQSTM1	1323	601530	NM_003900.5	AD
STUB1	912	607207	NM_005861.4	AD
TBC1D23	2100	617687	NM_001199198.3	AR
TBP	960	600075	NM_003194.5	AD
TDP1	1827	607198	NM_018319.4	AR
TDP2	1089	605764	NM_016614.3	AR
TGM6	2121	613900	NM_198994.3	AD
THG1L	909	618802	NM_017872.5	AR
TMEM240	522	616101	NM_001114748.2	AD
TOE1	1488	613931	NM_025077.4	AR
TPP1	1692	607998	NM_000391.4	AR
TTBK2	3735	611695	NM_173500.4	AD
TTC19	822	613814	NM_001271420.2	AR
TTPA	837	600415	NM_000370.3	AR
TUBB4A	1335	602662	NM_006087.4	AD
TWNK	2055	606075	NM_021830.5	AD
UBA5	1255	610552	NM_024818.6	AR
UCHL1	672	191342	NM_004181.5	AD
VAMP1	357	185880	NM_014231.5	AD
VPS13D	13236	608877	NM_015378.4	AR
VPS41	2625	605485	NM_014396.4	AR
WWOX	1245	605131	NM_016373.4	AR
XRCC1	1902	194360	NM_006297.3	AR

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_AP0018

Synonyme

Ataxia teleangiectasia
Ataxie mit okulomotoischer Apraxie
Friedreich
ataxia
episodic ataxia
episodische Ataxie
spinocerebellar ataxia
spinocerebelläre Ataxie
spinozerebelläre Ataxie

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Keine OMIM-Ps verknüpft

ICD10 Code

Bioinformatik und klinische Interpretation

Kein Text hinterlegt