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Klinische FragestellungMentale Retardierung bei Mikrozephalie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Mentale Retardierung bei Mikrozephalie mit 7 bzw. zusammen genommen 165 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP7892
Anzahl Gene
75 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
26,0 kb (Core-/Core-canditate-Gene)
240,2 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ASPM10434NM_018136.5AR
CASK2766NM_003688.3XL
DYRK1A2292NM_001396.5AD
ERCC81191NM_000082.4AR
RNASEH2B939NM_024570.4AR
TRAPPC93741NM_031466.8AR
WDR624572NM_001083961.2AR
AP4E13414NM_007347.5AR
ARCN11673NM_001655.5AD
ARFGEF25358NM_006420.3AR
ASNS1623NM_001178075.2AR
BRD44089NM_058243.3AD
CARS12639NM_001014437.3AR
CDK5RAP25682NM_018249.6AR
CENPJ4017NM_018451.5AR
CEP1353423NM_025009.5AR
CEP1524965NM_014985.4AR
CIT6307NM_001206999.2AR
CKAP2L2238NM_152515.5AR
CTNNB12346NM_001904.4AD
DHCR71428NM_001360.3AR
DHX304076NM_138615.3AD
DIAPH13819NM_005219.5AR
DPP62406NM_001039350.3AD
EFTUD22919NM_004247.4AD
GPT21572NM_133443.4AR
HNRNPR1921NM_001102398.3AD
HPDL1117NM_032756.4AR
IER3IP1249NM_016097.5AR
KIF113171NM_004523.4AD
KIF144947NM_014875.3AR
KNL17029NM_170589.5AR
MAST14848NM_014975.3AD
MCPH12508NM_024596.5AR
MED171956NM_004268.5AR
MED252244NM_030973.4AR
MEIS21413NM_001220482.2AD
MSMO1489NM_001017369.3AR
NDE11008NM_001143979.2AR
NSD24098NM_133330.3AD
PCDH123559NM_016580.4AR
PCNT10011NM_006031.6AR
PLAA2583NM_001031689.3AR
PLK42913NM_014264.5AR
PNKP1566NM_007254.4AR
POLA14389NM_016937.4XLR
PPP1R15B2142NM_032833.5AR
PRUNE11370NM_021222.3AR
PUS31449NM_031307.4AR
PUS72020NM_019042.5AR
PYCR2741NM_013328.4AR
QARS12328NM_005051.3AR
RAB3GAP12946NM_012233.3AR
RBBP82694NM_002894.3AR
RHOBTB22625NM_001160036.2AD
RTTN6681NM_173630.4AR
SASS61974NM_194292.3AR
SLC1A41607NM_003038.5AR
STAG23807NM_001042749.2XL
STAMBP1275NM_006463.6AR
STIL3867NM_001048166.1AR
SVBP203NM_199342.4AR
TBCD7465NM_005993.5AR
TMX2899NM_015959.4AR
TRAPPC6B518NM_177452.4AR
TRIO9294NM_007118.4AD
TRMT10A1020NM_001134665.3AR
TRRAP11580NM_003496.4AD
TUBGCP65460NM_020461.4AR
UFM1405NM_001286704.2AR
VARS13827NM_006295.3AR
VRK11191NM_003384.3AR
WDR731137NM_032856.5AR
ZMIZ13678NM_020338.4AD
ZNF3354029NM_022095.4AR

Infos zur Erkrankung

Klinischer Kommentar

Bei Mikrozephalie liegen oft auch gleichzeitig Epilepsie (40%), Augenleiden (20-50%), Zerebralparese (20%) und namentlich mentale Retardierung (50%) verschiedenen Ausmaßes vor. Bei der mentaler Retardierung kombiniert mit Mikrozephalie werden alle klassischen Erbgänge beobachtet, und multifaktorielle Geschehen stehen im Vordergrund. Die Diagnoserate ist vordringlich von der Qualität und den Ergebnissen der klinischen Voruntersuchungen abhängig. Ein unauffälliger genetischer Befund bedeutet keinen Ausschluss der klinischen Verdachtsdiagnose.

Referenz: https://www.aan.com/PressRoom/home/GetDigitalAsset/8479

 

Synonyme
  • Alias: Intellectual disability + microcephaly
  • Alias: Psycho-motor retardation + microcephaly
  • Allelic: Autism, susceptibility to, XL 5 (RPL10)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
  • Allelic: Cutaneous telangiectasia + cancer syndrome, familial (ATR)
  • Allelic: DNA damage repair defect [panelapp] (ZNF668)
  • Allelic: Exudative vitreoretinopathy 7 (CTNNB1)
  • Allelic: Hypogonadotropic hypogonadism 14 with/-out anosmia (WDR11)
  • Allelic: Lung cancer, susceptibility to (ERCC6)
  • Allelic: Macular degeneration, age-related, susceptibility to, 5 (ERCC6)
  • Allelic: Meckel syndrome 12 (KIF14)
  • Allelic: Microhydranencephaly (NDE1)
  • Allelic: Migraine, familial basilar (ATP1A2)
  • Allelic: Migraine, familial hemiplegic, 2 (ATP1A2)
  • Allelic: Multiple myeloma, resistance to (LIG4)
  • Allelic: Neonatal cholestatic liver disease [panelapp] (VPS50)
  • Allelic: Premature chromatid separation trait (BUB1B)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: Spastic paraplegia 83, AR (HPDL)
  • Allelic: Spinocerebellar ataxia, AR 24 (UBA5)
  • Allelic: Thyroid carcinoma, follicular (MINPP1)
  • Allelic: UV-sensitive syndrome 1 (ERCC6)
  • Allelic: UV-sensitive syndrome 2 (ERCC8)
  • Aicardi-Goutieres syndrome 2 (RNASEH2B)
  • Alazami syndrome (LARP7)
  • Alpha-thalassemia/mental retardation syndrome (ATRX)
  • Alternating hemiplegia of childhood 1 (ATP1A2)
  • Alzahrani-Kuwahara syndrome (SMG8)
  • Asparagine synthetase deficiency (ASNS)
  • Baralle-Macken syndrome (COPB1)
  • Basel-Vanagait-Smirin-Yosef syndrome (MED25)
  • Bloom syndrome (BLM)
  • Brain malformation, facial dysmorphism [panelapp] (ZNF668)
  • Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Cleft palate, cardiac defects, and mental retardation (MEIS2)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Congenital disorder of glycosylation, type Ie (DPM1)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • De Sanctis-Cacchione syndrome (ERCC6)
  • Developmental + epileptic encephalopathy 29 (AARS1)
  • Developmental + epileptic encephalopathy 44 (UBA5)
  • Developmental + epileptic encephalopathy 64 (RHOBTB2)
  • Developmental + epileptic encephalopathy 83 (UGP2)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Developmental + epileptic encephalopathy 98 (ATP1A2)
  • Developmental delay with/-out dysmorphic facies + autism (TRRAP)
  • Developmental delay, AR, intellectual disability + microcephaly (NAA20)
  • Developmental delay, impaired growth, dysmorphic facies, axonal neuropathy (MORC2)
  • Diencephalic-mesencephalic junction dysplasia syndrome 1 (PCDH12)
  • Encephalopathy, progressive, early-onset, with brain atrophy + spasticity (TRAPPC12)
  • Encephalopathy, progressive, early-onset, with brain atrophy + thin corpus callosum (TBCD)
  • Epilepsy, intellectual disability, microcephaly [panelapp] (ATP6V0C)
  • FG syndrome 4 (CASK)
  • Failure to thrive, profound global developmental delay, postnatal microcephaly [panelapp] (VPS50)
  • Fanconi anemia, complementation group P (SLX4)
  • Faundes-Banka syndrome (EIF5A)
  • Feingold syndrome 1 (MYCN)
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria + dysmorphic facies (ATP1A2)
  • Filippi syndrome (CKAP2L)
  • Galloway-Mowat syndrome 1 (WDR73)
  • Galloway-Mowat syndrome 3 (OSGEP)
  • Galloway-Mowat syndrome 6 (WDR4)
  • Global developm. delay, intell. disability, seizures, microcephaly, short digit [no OMIM] (HNRNPR)
  • Glycine encephalopathy with normal serum glycine (SLC6A9)
  • Goldberg-Shprintzen megacolon syndrome (KIFBP)
  • Growth delay, microcephaly + intellectual disability [panelapp] (HIST1H4C)
  • Growth retardation with deafness + mental retardation due to IGF1 deficiency (IGF1)
  • Growth retardation, impaired intellectual development, hypotonia + hepatopathy (IARS1)
  • Growth retardation, intellectual developmental disorder, hypotonia + hepatopathy (IARS)
  • Heyn-Sproul-Jackson syndrome (DNMT3A)
  • Holoprosencephaly 13, XL (STAG2)
  • Hypotonia, infantile, with psychomotor retardation + characteristic facies 2 (UNC80)
  • ID [MONDO:0001071], microcephaly [MONDO:0001149], short stature [HP:0004322] (WDR11)
  • ID [panelapp] (CTCF)
  • ID, microcephaly, cataracts, epilepsy, hypertonia, dystonia [panelapp] (ZNF526)
  • ID, microcephaly, heart defect, cleft palate, contract., deafness, skin creases [panelapp] (FBRSL1)
  • ID, postnatal microcephaly, failure to thrive, abnormal abdomen [panelapp] (ATP9A)
  • ID, postnatal microcephaly, hypotonia, failure to thrive [panelapp] (SMARCA5)
  • Insulin-like growth factor I, resistance to (IGF1R)
  • Intellectual developmental disorder with abnormal behavior, microcephaly + short stature (PUS7)
  • Intellectual developmental disorder with hypotonia, impaired speech, dysmorphic facies (TNPO2)
  • Intellectual developmental disorder, AD 44, with microcephaly (TRIO)
  • Intellectual developmental disorder, AR 72 (METTL5)
  • Intellectual developmental disorder, XL syndromic, Christianson type (SLC9A6)
  • Intellectual developmental disorder, XL, syndromic, 35 (RPL10)
  • Jawad syndrome (RBBP8)
  • Kaya-Barakat-Masson syndrome (YIF1B)
  • LIG4 syndrome (LIG4)
  • Leukodystrophy, adult-onset, AD (LMNB1)
  • Leukodystrophy, hypomyelinating, 10 (PYCR2)
  • Leukodystrophy, hypomyelinating, 14 (UFM1)
  • Lissencephaly 4 [with microcephaly] (NDE1)
  • MEHMO syndrome (EIF2S3)
  • Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
  • Martsolf syndrome 2 (RAB3GAP1)
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia + cortical malformations (MAST1)
  • Meier-Gorlin syndrome, microcephaly, intellectual disability [panelapp] (MCM7)
  • Menke-Hennekam syndrome 1 (CREBBP)
  • Mental retardation, AD 33 (DPP6)
  • Mental retardation, AD 40 (CHAMP1)
  • Mental retardation, AD 54 (CAMK2B)
  • Mental retardation, AD 7 (DYRK1A)
  • Mental retardation, AR 13 (TRAPPC9)
  • Mental retardation, AR 60 (TAF13)
  • Mental retardation, microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Mental retardation, with/-out nystagmus (CASK)
  • Mental retardation-hypotonic facies syndrome, XL (ATRX)
  • Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
  • Microcephaly + chorioretinopathy, AR, 1 (TUBGCP6)
  • Microcephaly + chorioretinopathy, AR, 2 (PLK4)
  • 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 17, primary, AR (CIT)
  • Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
  • Microcephaly 20, primary, AR (KIF14)
  • Microcephaly 26, primary, AD (LMNB1)
  • 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 with/-out chorioretinopathy, lymphedema, or mental retardation (KIF11)
  • Microcephaly, congenital cataract + psoriasiform dermatitis (MSMO1)
  • Microcephaly, developmental delay + brittle hair syndrome (CARS1)
  • Microcephaly, epilepsy + diabetes syndrome (IER3IP1)
  • Microcephaly, epilepsy + diabetes syndrome 2 (YIPF5)
  • Microcephaly, facial dysmorphism, renal agenesis + ambiguous genitalia syndrome (CTU2)
  • Microcephaly, growth deficiency, seizures + brain malformations (WDR4)
  • Microcephaly, growth deficiency, severe global developmental delay [panelapp] (ZNF668)
  • Microcephaly, intellectual disability, epilepsy [panelapp] (AGMO)
  • Microcephaly, postnatal progressive, with seizures + brain atrophy (MED17)
  • Microcephaly, progressive, seizures, cerebral + cerebellar atrophy (QARS1)
  • Microcephaly, seizures, developmental delay (PNKP)
  • Microcephaly, short stature, impaired glucose metabolism 1 (TRMT10A)
  • Microcephaly, short stature, impaired glucose metabolism 2 (PPP1R15B)
  • Microcephaly, short stature, polymicrogyria with seizures (RTTN)
  • Microcephaly, short stature, polymicrogyria with seizures (SASS6)
  • Microcephaly-capillary malformation syndrome (STAMBP)
  • Mosaic variegated aneuploidy syndrome 1 (BUB1B)
  • Mosaic variegated aneuploidy syndrome 2 (CEP57)
  • Mowat-Wilson syndrome (ZEB2)
  • Mullegama-Klein-Martinez syndrome (STAG2)
  • Multinucleated neurons, anhydramnios, renal dysplasia, cereb. hypoplasia, hydranencephaly (CEP55)
  • Mungan syndrome (RAD21)
  • Neurodegeneration with brain iron accumulation 6 (COASY)
  • Neurodevel. disorder, microcephaly, impaired language, epilepsy, gait abnormalities, AD (NARS)
  • Neurodevel. disorder, microcephaly, impaired language, gait abnormalities, AR (NARS)
  • Neurodevelopmental abnormality [HP:0012759] (PCDHGC4)
  • Neurodevelopmental disorder + structural brain anomalies with/-out seizures, spasticity (PTPN23)
  • Neurodevelopmental disorder with ataxia, hypotonia + microcephaly (SVBP)
  • Neurodevelopmental disorder with cerebral atrophy + variable facial dysmorphism (TTC5)
  • Neurodevelopmental disorder with dysmorphic facies + distal limb anomalies (BPTF)
  • Neurodevelopmental disorder with dysmorphic facies + distal skeletal anomalies (ZMIZ1)
  • Neurodevelopmental disorder with hypotonia, microcephaly + seizures (ADARB1)
  • Neurodevelopmental disorder with microcephaly + gray sclerae
  • Neurodevelopmental disorder with microcephaly + spastic paraplegia (GPT2)
  • Neurodevelopmental disorder with microcephaly + structural brain anomalies (DYNC1I2)
  • Neurodevelopmental disorder with microcephaly, arthrogryposis + structural brain anomalies (SMPD4)
  • Neurodevelopmental disorder with microcephaly, ataxia + seizures (SARS1)
  • Neurodevelopmental disorder with microcephaly, cortical malformations, spasticity (TMX2)
  • Neurodevelopmental disorder with microcephaly, epilepsy, brain atrophy (TRAPPC6B)
  • Neurodevelopmental disorder with microcephaly, hypotonia + variable brain anomalies (PRUNE1)
  • Neurodevelopmental disorder with microcephaly, seizures, cortical atrophy (VARS1)
  • Neurodevelopmental disorder with progressive microcephaly, spasticity + brain anomalies (PLAA)
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, brain abnormalities (MFSD2A)
  • Neurodevelopmental disorder with seizures + brain atrophy (EXOC7)
  • Neurodevelopmental disorder with severe motor impairment + absent language (DHX30)
  • Neurodevelopmental disorder with spastic diplegia + visual defects (CTNNB1)
  • Neurodevelopmental disorder with spasticity + poor growth (UFC1)
  • Neurodevelopmental disorder, progressive spasticity + brain white matter abnormalities (HPDL)
  • Neurooculocardiogenitourinary syndrome (WDR37)
  • Okur-Chung neurodevelopmental syndrome (CSNK2A1)
  • Pachygyria, microcephaly, developmental delay, dysmorphic face, with/-out seizures (TUBGCP2)
  • Periventricular heterotopia with microcephaly (ARFGEF2)
  • Pontocerebellar hypoplasia type 1A (VRK1)
  • Pontocerebellar hypoplasia type 2A (TSEN54)
  • Pontocerebellar hypoplasia type 4 (TSEN54)
  • Pontocerebellar hypoplasia type 5 (TSEN54)
  • Pontocerebellar hypoplasia, type 12 (COASY)
  • Pontocerebellar hypoplasia, type 14 (PPIL1)
  • Pontocerebellar hypoplasia, type 16 (MINPP1)
  • Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
  • Renpenning syndrome (PQBP1)
  • Rett syndrome, congenital variant (FOXG1)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • Seckel syndrome 1 (ATR)
  • Seckel syndrome 2 (RBBP8)
  • Seckel syndrome 4 (CENPJ)
  • Seckel syndrome 5 (CEP152)
  • Seckel syndrome 9 (TRAIP)
  • Seizures, abnormality of the corpus callosum [panelapp] (VPS50)
  • Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
  • Short stature, microcephaly + endocrine dysfunction (XRCC4)
  • Short stature, rhizomelic, with microcephaly, micrognathia + developmental delay (ARCN1)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Spastic paraplegia 51, AR (AP4E1)
  • Spastic tetraplegia, thin corpus callosum + progressive microcephaly (SLC1A4)
  • Stromme syndrome (CENPF)
  • Stuttering, familial persistent, 1 (AP4E1)
  • Tatton-Brown-Rahman syndrome (DNMT3A)
  • Trichothiodystrophy 6, nonphotosensitive (GTF2E2)
  • Van Esch-O'Driscoll syndrome (POLA1)
  • Verheij syndrome (PUF60)
  • Warburg micro syndrome 1 (RAB3GAP1)
  • Warsaw breakage syndrome (DDX11)
  • White-Sutton syndrome (POGZ)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

Test-Stärken

  • DAkkS-akkreditiertes Labor
  • EU-Richtlinie für IVD in Umsetzung
  • Qualitäts-kontrolliert arbeitendes Personal
  • Leistungsstarke Sequenzierungstechnologien, fortschrittliche Target-Anreicherungsmethoden und Präzisions-Bioinformatik-Pipelines sorgen für überragende analytische Leistung
  • Sorgfältige Kuratierung klinisch relevanter und wissenschaftlich begründeter Gen-Panels
  • eine Vielzahl nicht Protein-kodierender Varianten, die in unseren klinischen NGS-Tests mit erfasst werden
  • unser strenges Variantenklassifizierungsschema nach ACMG-Kriterien
  • unser systematischer klinischer Interpretations-Workflow mit proprietärer Software ermöglicht die genaue und nachvollziehbare Verarbeitung von NGS-Daten
  • unsere umfassenden klinischen Aussagen

Testeinschränkungen

  • Gene mit eingeschränkter Abdeckung werden gekennzeichnet
  • Gene mit kompletten oder partiellen Duplikationen werden gekennzeichnet
  • es wird angenommen, dass ein Gen suboptimal abgedeckt ist, wenn >90% der Nukleotide des Gens bei einem Mapping-Qualitätsfaktor von >20 (MQ>20) nicht abgedeckt sind
  • die Sensitivität der Diagnostik zur Erkennung von Varianten mit genannten Testeinschränkungen ist möglicherweise begrenzt bei:
  • Gen-Konversionen
  • komplexe Inversionen
  • Balancierte Translokationen
  • Mitochondriale Varianten
  • Repeat-Expansionen, sofern nicht anders dokumentiert
  • nicht kodierende Varianten, die Krankheiten verursachen, die von diesem Panel nicht mit abgedeckt werden
  • niedriger Mosaik-Status
  • Repeat-Blöcke von Mononukleotiden
  • Indels >50bp (Insertionen-Deletionen)
  • Deletionen oder Duplikationen einzelner Exons
  • Varianten innerhalb von Pseudogenen
  • die analytische Sensitivität kann geringer ausfallen werden, wenn die DNA nicht von amedes genetics extrahiert wurde

Laboranforderung

  • Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.

  • Für die Anforderung einer genetischen Untersuchung senden Sie uns bitte die Krankheits-ID auf einem Überweisungsschein. Bitte die Material-Angabe beachten.

  • Für privat versicherte Patienten empfehlen wir einen Antrag auf Kostenübernahme bei der Krankenversicherung.

  • Die Untersuchung wird auch für Selbstzahler angeboten.