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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessNeuropathy, hereditary motor, children / juveniles; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Neuropathy, hereditary motor, children / juveniles comprising 24 guideline-curated genes according to the clinical signs

ID
NP6698
Number of genes
17 Accredited laboratory test
Examined sequence length
35,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AARS12927NM_001605.3AD
ATP7A4503NM_000052.7XLR
BICD22568NM_001003800.2AD
BSCL21197NM_032667.6AD
CHCHD10429NM_213720.3AD
DCTN13837NM_004082.5AD
FBXO382832NM_001271723.2AD
GARS12220NM_002047.4AD
HSPB1618NM_001540.5AD
HSPB8591NM_014365.3AD
IGHMBP22982NM_002180.3AR
PLEKHG53189NM_020631.6AR
REEP1606NM_022912.3AD
SLC5A71743NM_021815.5AD
SORD1074NM_003104.6AR
TRPV42616NM_021625.5AD
WARS11451AD

Informations about the disease

Synonyms
  • Alias: Distal hereditary motor neuropathy, DHMN
  • Allelic: Amyotrophic lateral sclerosis 16, juvenile (SIGMAR1)
  • Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCNT1)
  • Allelic: Deafness, AD 4A (MYH14)
  • Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
  • Allelic: Perry syndrome [parkinsonism, depression, respiratory hypoventilation] (DCNT1)
  • Allelic: Spastic paraplegia 31, AD (REEP1)
  • Allelic: Usher syndrome type 3B (HARS1)
  • Charcot-Marie-Tooth disease, RI C (PLEKHG5)
  • Charcot-Marie-Tooth disease, axonal, type 2F (HSPB1)
  • Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
  • Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
  • Charcot-Marie-Tooth disease, axonal, type 2O (DYNC1H1)
  • Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
  • Charcot-Marie-Tooth disease, axonal, type 2W (HARS1)
  • Charcot-Marie-Tooth disease, type 2D (GARS1)
  • Developmental + epileptic encephalopathy 29 (AARS1)
  • Hereditary motor and sensory neuropathy, type IIc (TRPV4)
  • Neuromyotonia + axonal neuropathy, AR (HINT1)
  • Neuronopathy, distal hereditary motor, type IIA (HSPB8)
  • Neuronopathy, distal hereditary motor, type IIB (HSPB1)
  • Neuronopathy, distal hereditary motor, type IIC (HSPB3)
  • Neuronopathy, distal hereditary motor, type IID (FBXO38)
  • Neuronopathy, distal hereditary motor, type IX (WARS1)
  • Neuronopathy, distal hereditary motor, type VA (GARS1)
  • Neuronopathy, distal hereditary motor, type VB (REEP1)
  • Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
  • Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
  • Neuronopathy, distal hereditary motor, type VIIB (DCNT1)
  • Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Neuropathy, distal hereditary motor, type VA (BSCL2)
  • Peripheral neuropathy, myopathy, hoarseness, hearing loss (MYH14)
  • Spinal muscular atrophy, Jokela type (CHCHD10)
  • Spinal muscular atrophy, distal, AR, 2 (SIGMAR1)
  • Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
  • Spinal muscular atrophy, distal, XL 3 (ATP7A)
  • Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Spinal muscular atrophy, lower extremity-predominant, 2A + 2B, AD (BICD2)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined