Klinische FragestellungMikrozephalie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Mikrozephalie [großes panel] inclusive Leitlinien-kuratierten Genen sowie denjenigen, die den angegebenen HPO-Terms entsprechen
ID
MP0970
Anzahl Gene
2
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1.000,0 kb (Core-/Core-canditate-Gene)
1.002,6 kb (Erweitertes Panel: inkl. additional genes)
1.002,6 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 |
---|---|---|---|---|
TecExom | 999999 |
| n.k. | |
UBE3A | 2559 | NM_130838.4 | AD |
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: Microcephaly [comprehensive panel]
- Allelic: Alpha-thalassemia myelodysplasia syndrome, somatic (ATRX)
- Allelic: Alpha-thalassemia/mental retardation syndrome (ATRX)
- Allelic: Alternating hemiplegia of childhood 1 (ATP1A2)
- Allelic: Aplastic anemia (NBN)
- Allelic: Ataxia-oculomotor apraxia 4 (PNKP)
- Allelic: Autism, susceptibility to, XL 5 (RPL10)
- Allelic: Breast cancer, early-onset, susceptibility to (BRIP1)
- Allelic: Breast cancer, susceptibility to (PALB2)
- Allelic: Breast cancer, susceptibility to (RAD51)
- Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
- Allelic: Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
- Allelic: Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
- Allelic: Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
- Allelic: Charcot-Marie-Tooth disease, type 2B2 (PNKP)
- Allelic: Cutaneous telangiectasia + cancer syndrome, familial (ATR)
- Allelic: Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
- Allelic: Epilepsy, progressive myoclonic, 9 (LMNB2)
- Allelic: Exudative vitreoretinopathy 7 (CTNNB1)
- Allelic: Hepatocellular carcinoma, somatic (CTNNB1)
- Allelic: Hypogonadotropic hypogonadism 14 with/-out anosmia (WDR11)
- Allelic: Leukemia, acute lymphoblastic (NBN)
- Allelic: Leukodystrophy, adult-onset, AD (LMNB1)
- Allelic: Lipodystrophy, partial, acquired, susceptibility to (LMNB2)
- Allelic: Medulloblastoma, somatic (CTNNB1)
- Allelic: Mental retardation, with/-out nystagmus (CASK)
- Allelic: Migraine, familial basilar (ATP1A2)
- Allelic: Migraine, familial hemiplegic, 2 (ATP1A2)
- Allelic: Mirror movements 2 (RAD51)
- Allelic: Multiple myeloma, resistance to (LIG4)
- Allelic: Oocyte maturation defect 9 (TRIP13)
- Allelic: Ovarian cancer, somatic (CTNNB1)
- Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
- Allelic: Pancreatic carcinoma, somatic (RBBP8)
- Allelic: Pilomatricoma, somatic (CTNNB1)
- Allelic: Premature chromatid separation trait (BUB1B)
- Allelic: Premature ovarian failure 11 (ERCC6)
- Allelic: Roifman syndrome (RNU4ATAC)
- Allelic: Seckel syndrome 4 (CENPJ)
- Allelic: Seckel syndrome 5 (CEP152)
- Allelic: Stuttering, familial persistent, 1 (AP4E1)
- Allelic: Thiamine metabolism dysfunction syndrome 4 [progressive polyneuropathy type] (SLC25A19)
- Allelic: Thyroid carcinoma, follicular (MINPP1)
- Allelic: UV-sensitive syndrome 2 (ERCC8)
- Allelic: Ventricular fibrillation, paroxysmal familial, 2 (DPP6)
- Allelic: Wilms tumor (BRCA2)
- Allelic: Xeroderma pigmentosum, group F (ERCC4)
- Allelic: Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
- Aicardi-Goutieres syndrome 2 (RNASEH2B)
- Alazami syndrome (LARP7)
- Alzahrani-Kuwahara syndrome (SMG8)
- Angelman syndrome (UBE3A)
- Ataxia-telangiectasia-like disorder 1 (MRE11)
- Baralle-Macken syndrome (COPB1)
- Bloom syndrome (BLM)
- Bloom syndrome-like disorder [panelapp] (RMI1)
- Cerebrooculofacioskeletal syndrome 1 (ERCC6)
- Cerebrooculofacioskeletal syndrome 3 (ERCC5)
- Cockayne syndrome, type A (ERCC8)
- Cockayne syndrome, type B (ERCC6)
- Colorectal cancer, somatic (CTNNB1)
- 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 83 (UGP2)
- Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
- Developmental + epileptic encephalopathy 98 (ATP1A2)
- 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)
- 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 A (FANCA)
- Fanconi anemia, complementation group B (FANCB)
- Fanconi anemia, complementation group C (FANCC)
- Fanconi anemia, complementation group C (FANCD2)
- Fanconi anemia, complementation group D1 (BRCA2)
- Fanconi anemia, complementation group D2 (FANCD2)
- Fanconi anemia, complementation group E (FANCE)
- Fanconi anemia, complementation group F (FANCF)
- Fanconi anemia, complementation group G (FANCG)
- Fanconi anemia, complementation group I (FANCI)
- Fanconi anemia, complementation group J (BRIP1)
- Fanconi anemia, complementation group L (FANCL)
- Fanconi anemia, complementation group N (PALB2)
- Fanconi anemia, complementation group O (RAD51C)
- Fanconi anemia, complementation group P (SLX4)
- Fanconi anemia, complementation group Q (ERCC4)
- Fanconi anemia, complementation group R (RAD51)
- 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 2, XL (LAGE1)
- Galloway-Mowat syndrome 3 (OSGEP)
- Galloway-Mowat syndrome 4 (TP53RK)
- Galloway-Mowat syndrome 6 (WDR4)
- Galloway-Mowat syndrome 7 (NUP107)
- 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)
- 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, abnormal heart morphology, abnormal face [panelapp] (BRD4)
- 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)
- Jawad syndrome (RBBP8)
- Kaya-Barakat-Masson syndrome (YIF1B)
- LIG4 syndrome (LIG4)
- Leukodystrophy, hypomyelinating, 14 (UFM1)
- Lissencephaly 4 [with microcephaly] (NDE1)
- Lowry-Wood syndrome (RNU4ATAC)
- MEHMO syndrome (EIF2S3)
- Mandibulofacial dysostosis, Guion-Almeida type Mandibulofacial dysostosis, Guion-Almeida t. (EFTUD2)
- Meckel syndrome 12 (KIF14)
- Meier-Gorlin syndrome 1 (ORC1)
- Meier-Gorlin syndrome 2 (ORC4)
- Meier-Gorlin syndrome 3 (ORC6)
- Meier-Gorlin syndrome 4 (CDT1)
- Meier-Gorlin syndrome 6 (GMNN)
- Meier-Gorlin syndrome, microcephaly, intellectual disability [panelapp] (MCM7)
- Menke-Hennekam syndrome 1 (CREBBP)
- Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
- 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, XL syndromic, Christianson type (SLC9A6)
- Mental retardation, XL, syndromic, 35 (RPL10)
- Mental retardation-hypotonic facies syndrome, XL (ATRX)
- Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
- Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
- Microcephalic primordial dwarfism [MONDO:0017950] (PRIM1)
- Microcephalic primordial dwarfism [panelapp] (ATRIP)
- Microcephaly + chorioretinopathy, AR, 2 (PLK4)
- Microcephaly + chorioretinopathy, AR, 3 (TUBGCP4)
- Microcephaly 1, primary, AR (MCPH1)
- Microcephaly 10, primary, AR (ZNF335)
- Microcephaly 14, primary, AR (SASS6)
- Microcephaly 16, primary, AR (ANKLE2)
- Microcephaly 17, primary, AR (CIT)
- Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
- Microcephaly 20, primary, AR (KIF14)
- Microcephaly 21, primary, AR (NCAPD2)
- Microcephaly 22, primary, AR (NCAPD3)
- Microcephaly 25, primary, AR (TRAPPC14 syn. C7orf43)
- Microcephaly 26, primary, AD (LMNB1)
- Microcephaly 27, primary, AD (LMNB2)
- Microcephaly 28, primary, AR (RRP7A)
- Microcephaly 3, primary, AR (CDK5REP2)
- Microcephaly 4, primary, AR (KNL1)
- Microcephaly 5, primary, AR (ASPM)
- Microcephaly 6, primary, AR (CENPJ)
- Microcephaly 7, primary, AR (STIL)
- Microcephaly 8, AR (CEP135)
- Microcephaly 9, primary, AR (CEP152)
- Microcephaly [MONDO:0001149] (NSD2)
- Microcephaly with/-out chorioretinopathy, lymphedema or mental retardation (KIF11)
- Microcephaly, Amish type (SLC25A19)
- Microcephaly, congenital cataract + psoriasiform dermatitis (MSMO1)
- Microcephaly, epilepsy, and diabetes syndrome (IER3IP1)
- Microcephaly, facial dysmorphism, renal agenesis, ambiguous genitalia syndrome (CTU2)
- Microcephaly, growth deficiency, seizures + brain malformations (WDR4)
- Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
- Microcephaly, intellectual disability [panelapp] (PDCD6IP)
- 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 + limb abnormalities (DONSON)
- Microcephaly, short stature + polymicrogyria with seizures (RTTN)
- Microcephaly-capillary malformation syndrome (STAMBP)
- Microcephaly-micromelia syndrome (DONSON)
- Microhydranencephaly (NDE1)
- Mosaic variegated aneuploidy syndrome 1 (BUB1B)
- Mosaic variegated aneuploidy syndrome 2 (CEP57)
- Mosaic variegated aneuploidy syndrome 3 (TRIP13)
- Mowat-Wilson syndrome (ZEB2)
- Multinucleated neurons, anhydramnios, renal dysplasia, cereb. hypoplasia, hydranencephaly (CEP55)
- Mungan syndrome (RAD21)
- Neurodegeneration with brain iron accumulation 6 COASY)
- Neurodevelop. disorder, microcephaly, impaired language, epilepsy, gait abnormalities, AD (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 hypotonia, microcephaly + seizures (ADARB1)
- Neurodevelopmental disorder with microcephaly + spastic paraplegia (GPT2)
- Neurodevelopmental disorder with microcephaly + structural brain anomalies (DYNC1I2)
- 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 progr. microcephaly, spasticity, brain abnormalities (MFSD2A)
- Neurodevelopmental disorder with seizures + brain atrophy (EXOC7)
- 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)
- Nijmegen breakage syndrome (NBN)
- Nijmegen breakage syndrome-like disorder (RAD50)
- Nivelon-Nivelon-Mabille syndrome (HHAT)
- Okur-Chung neurodevelopmental syndrome (CSNK2A1)
- PEHO syndrome-like (CCDC88A)
- 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)
- Pontocerebellar hypoplasia, type 2F (TSEN15)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 6 (DNA2)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 5 (TOP3A)
- Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
- Renpenning syndrome (PQBP1)
- Rett syndrome, congenital variant (FOXG1)
- Rubinstein-Taybi syndrome 1 (CREBBP)
- Sandestig-Stefanova syndrome (NUP188)
- Seckel syndrome 1 (ATR)
- Seckel syndrome 2 (RBBP8)
- Seckel syndrome 6 (CEP63)
- Seckel syndrome 8 (DNA2)
- Seckel syndrome 9 (TRAIP)
- Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
- Severe combined immunodeficiency, microcephaly, growth retard., sens. to ionizing radiat. (NHEJ1)
- Short stature with microcephaly + distinctive facies (CRIPT)
- Short stature, microcephaly + endocrine dysfunction (XRCC4)
- Short stature, onychodysplasia, facial dysmorphism + hypotrichosis (POC1A)
- Short stature, rhizomelic, with microcephaly, micrognathia + developmental delay (ARCN1)
- Smith-Lemli-Opitz syndrome (DHCR7)
- Spastic paraplegia 47, AR (AP4B1)
- Spastic paraplegia 50, AR (AP4M1)
- Spastic paraplegia 51, AR (AP4E1)
- Spastic paraplegia 52, AR (AP4S1)
- Spastic tetraplegia, thin corpus callosum + progressive microcephaly (SLC1A4)
- Spinocerebellar ataxia, AR 24 (UBA5)
- Stromme syndrome (CENPF)
- Tatton-Brown-Rahman syndrome (DNMT3A)
- Trichothiodystrophy 4, nonphotosensitive (MPLKIP)
- Trichothiodystrophy 6, nonphotosensitive (GTF2E2)
- Verheij syndrome (PUF60)
- Warsaw breakage syndrome (DDX11)
- White-Sutton syndrome (POGZ)
- XFE progeroid syndrome (ERCC4)
- Xeroderma pigmentosum, group G (ERCC5)
- Xeroderma pigmentosum, group G/Cockayne syndrome (ERCC5)
Erbgänge, Vererbungsmuster etc.
- AD
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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