Deutsch
IllnessMikrozephalie mit Lissenzephalie [dicker Kortex], Differentialdiagnose
Summary
Short information
Comprehensive differential diagnostic panel for Microcephaly + lissencephaly [thick cortex] comprising 9 guideline-curated genes and altogether 10 curated genes according to the clinical signs
ID
MP1225
Number of genes
10
Accredited laboratory test
Examined sequence length
25,5 kb (Core-/Core-canditate-Genes)
27,5 kb (Extended panel: incl. additional genes)
27,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| ACTB | 1128 | NM_001101.5 | AD | |
| ACTG1 | 1128 | NM_001614.5 | AD | |
| DCX | 1083 | NM_178153.3 | XL | |
| DYNC1H1 | 13941 | NM_001376.5 | AD | |
| KIF5C | 2874 | NM_004522.3 | AD | |
| PAFAH1B1 | 1233 | NM_000430.4 | AD | |
| TUBA1A | 1356 | NM_006009.4 | AD | |
| TUBB2B | 1338 | NM_178012.5 | AD | |
| TUBG1 | 1356 | NM_001070.5 | AD | |
| KATNB1 | 1968 | NM_005886.3 | AR |
Informations about the disease
Clinical Comment
Lissencephaly (TUBA1A mutation): congenital cortical development anomaly due to abnormal neuronal migration involving neocortical + hippocampal lamination, corpus callosum, cerebellum, brainstem. A large clinical spectrum from severe epilepsy, intellectual + motor deficit to severe cerebral dysgenesis antenatally (pregnancy termination due to infaust prognosis)
Synonyms
- Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
- Allelic: Deafness, autosomal dominant 20/26 (ACTG1)
- Allelic: Dystonia, juvenile-onset (ACTB)
- Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
- Allelic: Subcortical laminal heterotopia, X-linked (DCX)
- Baraitser-Winter syndrome 1 (ACTB)
- Baraitser-Winter syndrome 2 (ACTG1)
- Cortical dysplasia, complex, with other brain malformations 2 (KIF5C)
- Cortical dysplasia, complex, with other brain malformations 4 (TUBG1)
- Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
- Lissencephaly 3 (TUBA1A)
- Lissencephaly 6, with microcephaly (KATNB1)
- Lissencephaly, XL (DCX)
- Mental retardation, autosomal dominant 13 (DYNC1H1)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined