IllnessMicrocephaly-Capillary Malformation Syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly-Capillary Malformation Syndrome comprising altogether 17 curated genes according to the clinical signs

MP9921

Number of loci

Locus type	Count
Gen	17

Accredited laboratory test

Examined sequence length

1,3 kb (Core-/Core-canditate-Genes)
75,0 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
STAMBP	1275	606247	NM_006463.6	AR
ASPM	10434	605481	NM_018136.5	AR
CDK5RAP2	5682	608201	NM_018249.6	AR
CDK6	981	603368	NM_001259.8	AR
CENPE	8106	117143	NM_001813.3	AR
CEP135	3423	611423	NM_025009.5	AR
CIT	6307	605629	NM_001206999.2	AR
COPB2	2743	606990	NM_004766.3	AR
EPHB4	2964	600011	NM_004444.5	AD
KNL1	7029	609173	NM_170589.5	AR
MCPH1	2508	607117	NM_024596.5	AR
NCAPD3	4583	609276	NM_015261.3	AR
NCAPH	2256	602332	NM_001281710.2	AR
NUP37	990	609264	NM_024057.4	AR
RASA1	3144	139150	NM_002890.3	AD
SASS6	1974	609321	NM_194292.3	AR
WDFY3	10581	617485	NM_014991.6	AD

Informations about the disease

Synonyms

Allelic: Basal cell carcinoma, somatic (RASA1)
Allelic: Lymphatic malformation 7 (EPHB4)
Capillary malformation-arteriovenous malformation 1 [Parkes-Weber syndrome] (RASA1)
Capillary malformation-arteriovenous malformation 2 (EPHB4)
Microcephaly 1, primary, (MCPH1)
Microcephaly 12, primary, AR (CDK6)
Microcephaly 13, primary, AR (CENPE)
Microcephaly 14, primary, AR (SASS6)
Microcephaly 17, primary, AR (CIT)
Microcephaly 18, primary, AD (WDFY3)
Microcephaly 19, primary, AR (COPB2)
Microcephaly 22, primary, AR (NCAPD3)
Microcephaly 23, primary, AR (NCAPH)
Microcephaly 24, primary, AR (NUP37)
Microcephaly 3, primary, AR (CDK5RAP2)
Microcephaly 4, primary, AR (KNL1)
Microcephaly 5, primary, AR [most common form of primary microcephaly 30%-50%] (ASPM)
Microcephaly 8, primary, AR (CEP135)
Microcephaly-capillary malformation syndrome (STAMBP)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined