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IllnessAction myoclonus-renal failure syndrome, differential diagnosis

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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
29 Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
57,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + X

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SCARB21437NM_005506.4AR
ACMSD1011NM_138326.3Ass
ATN13573NM_001007026.2AD
CERS11064NM_021267.5AR
CLN51077NM_006493.4AR
CLN6936NM_017882.3AR
CNTN23123NM_005076.5AR
DNAJC5597NM_025219.3AD
EPM2A996NM_005670.4AR
GBA11611NM_001005741.3AD, AR
GOSR2639NM_004287.5AR
INF23750NM_022489.4AD
KCNC11758NM_001112741.2AD
KCTD7870NM_153033.5AR
LMNB21863NM_032737.4AR
NEU11248NM_000434.4AR
NHLRC11188NM_198586.3AR
PRDM82078NM_001099403.2AR
PRICKLE12496NM_153026.3AR
PRICKLE22535NM_198859.4AR
RAPGEF25220NM_014247.4AD
SAMD12795NM_001101676.2AD, AR
SEMA6B2701NM_032108.4AD
SERPINI11233NM_001122752.2AD
SGCE1314NM_003919.3AD
SLC7A6OS943NM_032178.3AR
STARD71121NM_020151.4AD
TNRC6A5995NM_014494.4AD
YEATS24308NM_018023.5AD

Informations about the disease

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

Bioinformatics and clinical interpretation

No text defined