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Klinische FragestellungMikrozephalie, isoliert, primär/sekundär; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Mikrozephalie, isoliert, primär oder sekundär, mit 6 Leitlinien-kuratierten sowie insgesamt 34 kuratierten Genen

ID
MP1223
Anzahl Gene
22 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
28,8 kb (Core-/Core-canditate-Gene)
78,0 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ASPM10434NM_018136.5AR
CENPJ4017NM_018451.5AR
CEP1524965NM_014985.4AR
MCPH12508NM_024596.5AR
NBN2265NM_002485.5AR
WDR624572NM_001083961.2AR
AP4B12220NM_006594.5AR
AP4M11362NM_004722.4AR
AP4S1480NM_007077.5AR
CDK5RAP25682NM_018249.6AR
CDK6981NM_001259.8AR
CENPE8106NM_001813.3AR
CEP1353423NM_025009.5AR
CRIPT306NM_014171.6AR
KNL17029NM_170589.5AR
NSRP11995NM_001261467.2AR
PALB23561NM_024675.4AR
PHC13015NM_004426.3AR
RAD51C1131NM_058216.3AR
SASS61974NM_194292.3AR
STIL3867NM_001048166.1AR
ZNF3354029NM_022095.4AR

Infos zur Erkrankung

Klinischer Kommentar

Genetisch heterogene Störung der Gehirnentwicklung mit reduziertem Kopfumfang bei Geburt ohne grobe Anomalien der Gehirnarchitektur + variable Grade intellektueller Beeinträchtigung

 

Synonyme
  • Alias: Microcephalia vera
  • Alias: Microcephaly vera
  • Alias: True microcephaly
  • Allelic: Aplastic anemia (NBN)
  • Allelic: Breast cancer, susceptibility to (PALB2)
  • Allelic: Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
  • Allelic: Intellectual disability [panelapp] (MCM7)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Meier-Gorlin syndrome [panelapp] (MCM7)
  • Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
  • Allelic: Seckel syndrome 4 (CENPJ)
  • Allelic: Seckel syndrome 5 (CEP152)
  • Ataxia-telangiectasia-like disorder 1 (MRE11)
  • Baralle-Macken syndrome (COPB1)
  • Bloom syndrome-like disorder [panelapp] (RMI1)
  • Cerebrooculofacioskeletal syndrome 3 (ERCC5)
  • Cornelia de Lange-like syndrome [MONDO:0016033] (BRD4)
  • Developmental + epileptic encephalopathy 104 (ATP6V0A1)
  • Developmental + epileptic encephalopathy 107 (NAPB)
  • Developmental delay + microcephaly [panelapp] (HMGB1)
  • Epilepsy, ID, microcephaly [panelapp] (ATP6V0C)
  • Fanconi anemia, complementation group N (PALB2)
  • Fanconi anemia, complementation group O (RAD51C)
  • Global developm. delay, ID, seizures, white matter atrophy, corpus callosum + head abnormal (DROSHA)
  • Intellectual developmental disorder, AR 73 (NAA20)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
  • Meier-Gorlin syndrome [MONDO:0016817] (GINS3)
  • Meier-Gorlin syndrome like [panelapp] (GINS3)
  • Microcephaly 1, primary, AR (MCPH1)
  • Microcephaly 10, primary, AR (ZNF335)
  • Microcephaly 11, primary, AR (PHC1)
  • Microcephaly 12, primary, AR (CDK6)
  • Microcephaly 13, primary, AR (CENPE)
  • Microcephaly 14, primary, AR (SASS6)
  • Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
  • Microcephaly 22, primary, AR (NCAPD3)
  • Microcephaly 25, primary, AR (TRAPPC14)
  • Microcephaly 28, primary, AR (RRP7A)
  • Microcephaly 29, primary, AR (PDCD6IP)
  • Microcephaly 3, primary, AR (CDK5RAP2)
  • Microcephaly 4, primary, AR (KNL1)
  • Microcephaly 5, primary, AR (ASPM)
  • Microcephaly 6, primary, AR (CENPJ)
  • Microcephaly 7, primary, AR (STIL)
  • Microcephaly 8, primary, AR (CEP135)
  • Microcephaly 9, primary, AR (CEP152)
  • Microcephaly [panelapp] (MCM7)
  • Microcephaly, postnatal progressive, with seizures + brain atrophy (MED17)
  • Microcephaly, progressive, seizures + cerebral + cerebellar atrophy (QARS1)
  • Microcephaly, short stature + impaired glucose metabolism 2 (PPP1R15B)
  • Neurodevelopmental delay, postnat. microceph., failure to thrive, gastrointest. [panelapp] (ATP9A)
  • Neurodevelopmental disorder with epilepsy + brain atrophy (ATP6V0A1)
  • Neurodevelopmental disorder with microcephaly, ataxia + seizures (SARS1)
  • Neurodevelopmental disorder with microcephaly, cerebral atrophy, visual impairment (DOHH)
  • Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus + seizures (CPSF3)
  • Neurodevelopmental disorder with microcephaly, movement abnormalities + seizures (CHKA)
  • Neurodevelopmental disorder with poor growth + skeletal anomalies (PCDHGC4)
  • Neurodevelopmental disorder with seizures + brain atrophy (EXOC7)
  • Neurodevelopmental disorder with spasticity, seizures + brain abnormalities (NSRP1)
  • Nijmegen breakage syndrome (NBN)
  • Nivelon-Nivelon-Mabille syndrome (HHAT)
  • PEHO [Progr. Encephalop., edema, Hypsarrythm., Optic atrophy] syndrome-like (CCDC88A)
  • Primordial dwarfism-immunodeficiency-lipodystrophy syndrome (PRIM1)
  • Rauch-Steindl syndrome (NSD2)
  • Short stature with microcephaly + distinctive facies (CRIPT)
  • Short stature-micrognathia syndrome (ARCN1)
  • Spastic paraplegia 47, AR (AP4B1)
  • Spastic paraplegia 50, AR (AP4M1)
  • Spastic paraplegia 52, AR (AP4S1)
  • Trichothiodystrophy 4, nonphotosensitive (MPLKIP)
  • Xeroderma pigmentosum, group G (ERCC5)
  • Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
Erbgänge, Vererbungsmuster etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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