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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 loci
Locus typeCount
Gen 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

 

Loci

Gen

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