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Klinische FragestellungSpiegelbewegungen, familiäre kongenitale; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Spiegelbewegungen, (familiäre) kongenitale, mit 3 bzw. zusammen genommen 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
SP4994
Anzahl Gene
8 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
7,2 kb (Core-/Core-canditate-Gene)
20,2 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
DCC4344NM_005215.4AR
NTN11821NM_004822.3AD
RAD511023NM_001164269.2AD
ANOS12043NM_000216.4XLR
GDF31095NM_020634.3AD
GDF61368NM_001001557.4AD, AR
MEOX1765NM_004527.4AR
MYO18B7704NM_032608.7AR

Infos zur Erkrankung

Synonyme
  • Alias: Mirror movements, [familial] congenital
  • Allelic: Breast cancer, susceptibility to (RAD51)
  • Allelic: Cutaneous telangiectasia + cancer syndrome, familial (ATR)
  • Allelic: Esophageal carcinoma, somatic (DCC)
  • Allelic: Fanconi anemia, complementation group R (RAD51)
  • Allelic: Gaze palsy, familial horizontal, with progressive scoliosis, 2 (DCC)
  • Allelic: Leber congenital amaurosis 17 (GDF6)
  • Allelic: Microphthalmia with coloboma 6 (GDF3)
  • Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
  • Allelic: Microphthalmia, isolated 4 (GDF6)
  • Allelic: Microphthalmia, isolated 7 (GDF3)
  • Allelic: Multiple synostoses syndrome 4 (GDF6)
  • Basal cell nevus syndrome ((SSUFU)
  • Basal cell nevus syndrome (PTCH1)
  • Basal cell nevus syndrome (PTCH2)
  • Holoprosencephaly 7 (PTCH1)
  • Hypogonadotropic hypogonadism 1 with/-out anosmia [Kallmann syndrome 1] (ANOS1)
  • Jawad syndrome: microcephaly, mental retardation, digital anomalies (RBBP8)
  • Joubert patients may show mirror movements (AHI1, CC2D2A3, CEP290, CPLANE, TMEM67 + 29 add. genes)
  • Klippel-Feil syndrome 1, AD (GDF6)
  • Klippel-Feil syndrome 2 (MEOX1)
  • Klippel-Feil syndrome 3, AD (GDF3)
  • Klippel-Feil syndrome 4, AR, with myopathy + facial dysmorphism (MYO18B)
  • Medulloblastoma, desmoplastic (SUFU)
  • Microcephaly 6, primary, AR (CENPJ)
  • Microcephaly 9, primary, AR (CEP152)
  • Mirror movements 1 and/or agenesis of the corpus callosum (DCC)
  • Mirror movements 2 (RAD51)
  • Mirror movements 3 (DNAL4)
  • Mirror movements 4 (NTN1)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 6 (DNA2)
  • Seckel syndrome 1 (ATR)
  • Seckel syndrome 10 (NSMCE2)
  • Seckel syndrome 2 (RBBP8)
  • Seckel syndrome 4 (CENPJ)
  • Seckel syndrome 5 (CEP152)
  • Seckel syndrome 6 (CEP63)
  • Seckel syndrome 7 (NIN)
  • Seckel syndrome 8 (DNA2)
  • Seckel syndrome 9 (TRAIP)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
R25.-

Bioinformatik und klinische Interpretation

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