Klinische FragestellungAktionsmyoklonus-Nierenversagen-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Aktionsmyoklonus-Nierenversagen-Syndrom, mit zusammen genommen 33 kuratierten Genen gemäß klinischer Verdachtsdiagnose

AP9225

Anzahl Loci

Locus-Typ	Anzahl
Gen	29

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

1,5 kb (Core-/Core-canditate-Gene)
57,5 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS + X

Loci

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
SCARB2	1437	602257	NM_005506.4	AR
ACMSD	1011	608889	NM_138326.3	Ass
ATN1	3573	607462	NM_001007026.2	AD
CERS1	1064	606919	NM_021267.5	AR
CLN5	1077	608102	NM_006493.4	AR
CLN6	936	606725	NM_017882.3	AR
CNTN2	3123	190197	NM_005076.5	AR
DNAJC5	597	611203	NM_025219.3	AD
EPM2A	996	607566	NM_005670.4	AR
GBA1	1611	606463	NM_001005741.3	AD, AR
GOSR2	639	604027	NM_004287.5	AR
INF2	3750	610982	NM_022489.4	AD
KCNC1	1758	176258	NM_001112741.2	AD
KCTD7	870	611725	NM_153033.5	AR
LMNB2	1863	150341	NM_032737.4	AR
NEU1	1248	608272	NM_000434.4	AR
NHLRC1	1188	608072	NM_198586.3	AR
PRDM8	2078	616639	NM_001099403.2	AR
PRICKLE1	2496	608500	NM_153026.3	AR
PRICKLE2	2535	608501	NM_198859.4	AR
RAPGEF2	5220	609530	NM_014247.4	AD
SAMD12	795	618073	NM_001101676.2	AD, AR
SEMA6B	2701	608873	NM_032108.4	AD
SERPINI1	1233	602445	NM_001122752.2	AD
SGCE	1314	604149	NM_003919.3	AD
SLC7A6OS	943	619192	NM_032178.3	AR
STARD7	1121	616712	NM_020151.4	AD
TNRC6A	5995	610739	NM_014494.4	AD
YEATS2	4308	613373	NM_018023.5	AD

Infos zur Erkrankung

Synonyme

Alias: Epilepsy, progressive myoclonic 4 +/- renal failure (SCARB2)
Alias: Myoclonus-nephropathy syndrome
Alias: Myoklonus-Nephropathie-Syndrom
Alias: Myoklonusepilepsie, progressive, Typ 4
Alias: Progressive myoclonic epilepsy type 4
Alias: Progressive myoclonus epilepsy type 4
Allelic: Aphasia, primary progressive (GRN)
Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
Allelic: Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
Allelic: Gaucher disease, perinatal lethal (GBA)
Allelic: Lewy body dementia, susceptibility to (GBA)
Allelic: Lipodystrophy, partial, acquired, susceptibility to (LMNB2)
Allelic: Microcephaly 27, primary, AD (LMNB2)
Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
Ceroid lipofuscinosis, neuronal, 1 (PPT1)
Ceroid lipofuscinosis, neuronal, 11 (GRN)
Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
Ceroid lipofuscinosis, neuronal, 5 (CLN5)
Ceroid lipofuscinosis, neuronal, 6 (CLN6)
Ceroid lipofuscinosis, neuronal, Kufs type, adult onset (CLN6)
Charcot-Marie-Tooth disease, dominant intermediate E (INF2)
Dentatorubral-pallidoluysian atrophy (ATN1)
Dystonia-11, myoclonic (SGCE)
Encephalopathy, familial, with neuroserpin inclusion bodies (SERPINI1)
Epilepsy, familial adult myoclonic 1 (SAMD12)
Epilepsy, familial adult myoclonic 2 (STARD7)
Epilepsy, familial adult myoclonic 4 (YEATS2)
Epilepsy, familial adult myoclonic 5 (CNTN2)
Epilepsy, familial adult myoclonic 6 /TVRC6A)
Epilepsy, familial adult myoclonic 7 (RAPGEF2)
Epilepsy, progressive myoclonic 10 (PRDM8)
Epilepsy, progressive myoclonic 11 (SEMA6B)
Epilepsy, progressive myoclonic 12 (SLC7A6OS)
Epilepsy, progressive myoclonic 1A [Unverricht + Lundborg] (CSTB)
Epilepsy, progressive myoclonic 1B (PRICKLE1)
Epilepsy, progressive myoclonic 2A [Lafora] (EPM2A)
Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
Epilepsy, progressive myoclonic 5 (PRICKLE2)
Epilepsy, progressive myoclonic 6 (GOSR2)
Epilepsy, progressive myoclonic 7 (KCNC1)
Epilepsy, progressive myoclonic 8 (CERS1)
Epilepsy, progressive myoclonic 9 (LMNB2)
Gaucher disease, type I, II, III, IIIC (GBA)
Glomerulosclerosis, focal segmental, 5 (INF2)
Sialidosis, types I + II (NEU1)

Erbgänge, Vererbungsmuster etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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