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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMicrocephaly + polymicrogyria, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly + polymicrogyria comprising 11 guideline-curated and 4 additional curated genes according to the clinical suspicion

ID
MP1229
Number of genes
12 Accredited laboratory test
Examined sequence length
35,7 kb (Core-/Core-canditate-Genes)
42,4 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
ADGRG12064NM_005682.7AR
DYNC1H113941NM_001376.5AD
POMGNT11983NM_017739.4AR
RAB18621NM_021252.5AR
RAB3GAP12946NM_012233.3AR
RAB3GAP24182NM_012414.4AR
TUBA1A1356NM_006009.4AD
TUBB1335NM_178014.4AD
TUBB2B1338NM_178012.5AD
TUBB31353NM_006086.4AD
WDR624572NM_001083961.2AR
RTTN6681NM_173630.4AR

Informations about the disease

Clinical Comment

Heterogenous group of cerebral cortical malformations: excessive cortical folding, abnormal cortical layering, depending on its topographic distribution, variable combinations of neurological symptoms, varying severity, epilepsy, developmental delay, intellectual disability, motor dysfunction (spasticity), pseudobulbar palsy

 

Synonyms
  • Alias: Microcephaly combined with polymicrogyria
  • Allelic: Alternating hemiplegia of childhood 1 (ATP1A2)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: Migraine, familial basilar (ATP1A2)
  • Allelic: Migraine, familial hemiplegic, 2 (ATP1A2)
  • Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
  • Allelic: Retinitis pigmentosa 76 (POMGNT1)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
  • Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Developmental + epileptic encephalopathy 98 (ATP1A2)
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria + dysmorphic facies (ATP1A2)
  • Lissencephaly 3 (TUBA1A1)
  • Martsolf syndrome (RAB3GAP2)
  • Mental retardation, AD 13 (DYNC1H1)
  • Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
  • Microcephaly 5, primary, AR (ASPM)
  • Microcephaly, short stature, polymicrogyria with seizures (RTTN)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain + eye anomalies), type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 (POMGNT1)
  • Neurodevelopmental disorder, microcephaly, cortical malformations + spasticity (TMX2)
  • Warburg micro syndrome 1 (RAB3GAP1)
  • Warburg micro syndrome 2 (RAB3GAP2)
  • Warburg micro syndrome 3 (RAB18)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined