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
15
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
28,8 kb (Core-/Core-canditate-Gene)
66,9 kb (Erweitertes Panel: inkl. additional genes)
66,9 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
ASPM | 10434 | NM_018136.5 | AR | |
CENPJ | 4017 | NM_018451.5 | AR | |
CEP152 | 4965 | NM_014985.4 | AR | |
MCPH1 | 2508 | NM_024596.5 | AR | |
NBN | 2265 | NM_002485.5 | AR | |
WDR62 | 4572 | NM_001083961.2 | AR | |
CDK5RAP2 | 5682 | NM_018249.6 | AR | |
CDK6 | 981 | NM_001259.8 | AR | |
CENPE | 8106 | NM_001813.3 | AR | |
CEP135 | 3423 | NM_025009.5 | AR | |
KNL1 | 7029 | NM_170589.5 | AR | |
PHC1 | 3015 | NM_004426.3 | AR | |
SASS6 | 1974 | NM_194292.3 | AR | |
STIL | 3867 | NM_001048166.1 | AR | |
ZNF335 | 4029 | NM_022095.4 | AR |
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
Q02
Bioinformatik und klinische Interpretation
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