Deutsch
IllnessCortical dysplasia, complex, with other brain malformations; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Complex cortical dysplasia with other brain malformations comprising 6 guideline-curated core ganes, together 12guideline-curated core genes and altogether 17 curated genes according to the clinical signs
ID
KP0390
Number of genes
14
Accredited laboratory test
Examined sequence length
23,5 kb (Core-/Core-canditate-Genes)
37,6 kb (Extended panel: incl. additional genes)
37,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| CTNNA2 | 2583 | NM_001164883.2 | AR | |
| KIF2A | 2235 | NM_001098511.3 | AD | |
| KIF5C | 2874 | NM_004522.3 | AD | |
| MTOR | 7650 | NM_004958.4 | AD | |
| TUBA8 | 1350 | NM_018943.3 | AR | |
| TUBB | 1335 | NM_178014.4 | AD | |
| TUBB2A | 1338 | NM_001069.3 | AD | |
| TUBB2B | 1338 | NM_178012.5 | AD | |
| TUBB3 | 1353 | NM_006086.4 | AD | |
| TUBG1 | 1356 | NM_001070.5 | AD | |
| CNTNAP2 | 3996 | NM_014141.6 | AR | |
| SLC35A2 | 1182 | NM_001042498.3 | XL | |
| TSC1 | 3495 | NM_000368.5 | AD | |
| TSC2 | 5424 | NM_000548.5 | AD |
Informations about the disease
Clinical Comment
Group of disorders
Non-syndromic cerebral malformation due to abnormal neuronal migration with variable-sized, focalized malformations located in any parts of the cerebral cortex, manifesting with drug-resistant epilepsy (usually with intellectual disability) + behavioral disturbances.
Synonyms
- Alias: Brain cortical dysplasia
- Alias: Cerebral cortical dysplasia
- Allelic: Autism susceptibility 15 (CNTNAP2)
- Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
- Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
- Allelic: Lymphangioleiomyomatosis (TSC1)
- Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
- Allelic: Smith-Kingsmore [MINDS] syndrome (MTOR)
- Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
- Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
- Allelic: Tuberous sclerosis-1 (TSC1)
- Allelic: Tuberous sclerosis-2 (TSC2)
- Congenital disorder of glycosylation, type IIm (SLC35A2)
- Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
- Cortical dysplasia, complex, with other brain malformations 10 (APC2)
- Cortical dysplasia, complex, with other brain malformations 2 (KIF5C)
- Cortical dysplasia, complex, with other brain malformations 3 (KIF2A)
- Cortical dysplasia, complex, with other brain malformations 4 (TUBG1)
- Cortical dysplasia, complex, with other brain malformations 5 (TUBB2A)
- Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
- Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
- Cortical dysplasia, complex, with other brain malformations 8 (TUBA8)
- Cortical dysplasia, complex, with other brain malformations 9 (CTNNA2)
- Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)
- Focal cortical dysplasia, type II, somatic (MTOR, TSC1, TSC2)
- Intellectual developmental disorder, AR 74 (APC2)
- Lissencephaly 3 (TUBA1A)
- Mental retardation, autosomal dominant 13 (DYNC1H1)
- Pitt-Hopkins like syndrome 1 (CNTNAP2)
Heredity, heredity patterns etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q04.3
Bioinformatics and clinical interpretation
No text defined