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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessPantothenate-kinase-associated neurodegeneration, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Pantothenate-kinase-associated neurodegeneration containing 1 core gene, 11 core candidate genes and altogether 14 curated genes according to the clinical signs

ID
PP0130
Number of genes
14 Accredited laboratory test
Examined sequence length
19,7 kb (Core-/Core-canditate-Genes)
24,0 kb (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
ATP13A23543NM_022089.4AR
C19orf12459NM_001031726.3AR, AD
COASY1695NM_025233.7AR
CP3198NM_000096.4AR
DCAF171563NM_025000.4AR
FA2H1119NM_024306.5AR
FTL528NM_000146.4AD
PANK21713NM_153638.4AR
PLA2G62421NM_003560.4AR
RAB39B642NM_171998.4XLR
SCP21644NM_002979.5AR
WDR451086NM_007075.4XL
CRAT1881NM_000755.5AR
REPS12467NM_001128617.3AR

Informations about the disease

Clinical Comment

Fucosidosis (FUCA1): DD to classic PKAN with early clinical changes: intellectual disability + Dandy-Walker malformation

Leigh syndrome due to many nuclear and mt gene mutations

Infantile neuroaxonal dystrophy (PLA2G6)

Primary familial brain calcification (PDGFB, PDGFRB, SLC20A2)

Aceruloplasminemia (CP)

Neuroferritinopathy (FTL)

Steele-Richardson-Olzewski syndrome (MAPT)

?Leukoencephalopathy with dystonia and motor neuropathy (SCP2)

Waisman syndrome, X-linked mental retardation-72 with early-onset Parkinson disease (RAB39B)

 

Synonyms
  • Alias: PKAN
  • Allelic: Cerebellar ataxia (CP)
  • Allelic: HARP syndrome (PANK2)
  • Allelic: Hyperferritinemia-cataract syndrome (FTL)
  • Allelic: Hypoceruloplasminemia, hereditary (CP)
  • Allelic: L-ferritin deficiency, AD + AR (FTL)
  • Allelic: Mental retardation, XL 72 (RAB39B)
  • Allelic: Parkinson disease 14, AR (PLA2G6)
  • Allelic: Pontocerebellar hypoplasia, type 12 (COASY)
  • Fatty acid hydrolase-associated neurodegeneration (FA2H)
  • Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Infantile neuroaxonal dystrophy 1 [NBIA2A] (PLA2G6)
  • Kufor-Rakeb syndrome (ATP13A2)
  • Neurodegeneration with brain iron accumulation 1 [NBIA1], obsolete Hallervorden-Spatz synd. (PANK2)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration with brain iron accumulation 3 (FTL)
  • Neurodegeneration with brain iron accumulation 4 (C19orf12)
  • Neurodegeneration with brain iron accumulation 5 (WDR45)
  • Neurodegeneration with brain iron accumulation 6 (COASY)
  • Neurodegeneration with brain iron accumulation 7 (REPS1)
  • Neurodegeneration with brain iron accumulation 8 (CRAT)
  • PKAN (PANK2)
  • Spastic paraplegia 35, AR (FA2H)
  • Spastic paraplegia 43, AR (ATP13A2)
  • Spastic paraplegia 78, AR (ATP13A2)
  • Sterol carrier protein 2 deficiency (SCP2)
  • Waisman syndrome (RAB39B)
  • Woodhouse-Sakati syndrome (DCAF17)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined