©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessAction myoclonus-renal failure syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Action myoclonus-renal failure syndrome comprising altogether 33 curated genes according to the clinical signs

ID
AP9225
Number of genes
28 Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
54,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + X

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
SCARB21437AR
ACMSD1011Ass
CERS11064AR
CLN51077AR
CLN6936AR
CNTN23123AR
DNAJC5597AD
EPM2A996AR
GBA11611AD, AR
GOSR2639AR
INF23750AD
KCNC11758AD
KCTD7870AR
LMNB21863AR
NEU11248AR
NHLRC11188AR
PRDM82078AR
PRICKLE12496AR
PRICKLE22535AR
RAPGEF25220AD
SAMD12795AD
SEMA6B2701n.k.
SERPINI11233AD
SGCE1314AD
SLC7A6OS943n.k.
STARD71121AR
TNRC6A5995AD
YEATS24308AR

Informations about the disease

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Ass
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G25.3

Bioinformatics and clinical interpretation

No text defined