IllnessMicrocephaly + dysgyria, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly + dysgyria comprising 5 guideline-curated and altogether 7 curated genes

MP1227

Number of genes

6 Accredited laboratory test

Examined sequence length

19,4 kb (Core-/Core-canditate-Genes)
26,1 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
DYNC1H1	13941	600112	NM_001376.5	AD
TUBA1A	1356	602529	NM_006009.4	AD
TUBB	1335	191130	NM_178014.4	AD
TUBB2B	1338	612850	NM_178012.5	AD
TUBB3	1353	602661	NM_006086.4	AD
RTTN	6681	610436	NM_173630.4	AR

Informations about the disease

Clinical Comment

Microcephaly + dysgyria: nearly 20 genes for DD, e.g. tubulinopathies, rasopathies (Warburg micro syndrome), syndromes with microcephaly + polymicrogyria (Goldberg-Shprintzen syndrome)

Synonyms

Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNK1H1)
Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
Allelic: Mental retardation, AD 13 (DYNC1H1)
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)
Lissencephaly 3 (TUBA1A)
Pachygyria, microcephaly, developmental delay, dysmorphic facies, with/-out seizures (TUBGCP2)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q02

Bioinformatics and clinical interpretation

No text defined