IllnessMicrocephaly + double cortex/subcortical band heterotypia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly [double cortex/subcortical band heterotypia] containing 2 guideline-curated genes and altogether 7 curated genes according to the clinical signs

MP1235

Number of genes

2 Accredited laboratory test

Examined sequence length

2,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
DCX	1083	300121	NM_178153.3	XL
PAFAH1B1	1233	601545	NM_000430.4	AD

Informations about the disease

Clinical Comment

Leitlinie: Klassifikation und Diagnostik der Mikrozephalie; Klassifikation S2k; Stand: 13.09.2019, gültig bis 31.08.2024

Synonyms

Alias: DCX-related subcortical band heterotopia
Allelic: Deafness, AD 20/26 (ACTG1)
Allelic: Dystonia, juvenile-onset (ACTB)
Allelic: Lissencephaly, XL (DCX)
Baraitser-Winter syndrome 1 (ACTB)
Baraitser-Winter syndrome 2 (ACTG1)
Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
Lissencephaly 1 (PAFAH1B1)
Lissencephaly 10 (CEP85L)
Lissencephaly 10 [MONDO:0030031] (CEP85L)
Lissencephaly 3 (TUBA1A)
Microcephaly; double cortex/subcortical band heterotypy
Subcortical laminal heterotopia, XL (DCX)
Subcortical laminar heterotopia (PAFAH1B1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined