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Klinische FragestellungPrä-/postnatale pontozerebelläre Hypoplasie, Differentialdiagnose

Auftragsschein Klin. Fragestellung

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Prä-/postnatale pontozerebelläre Hypoplasie mit 16 "core candidate"-Genen bzw. zusammen genommen 31 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
PP0008
Anzahl Gene
28 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,5 kb (Core-/Core-canditate-Gene)
56,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • Chorionzotten (CVS)
  • Fruchtwasser (nach AC)
  • Nabelschnurblut (NB)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
AMPD22478NM_001368809.2AR
CASK2766NM_003688.3XL
CHMP1A591NM_002768.5AR
CLP11086NM_001142597.2AR
COASY1695NM_025233.7AR
EXOSC3828NM_016042.4AR
RARS21737NM_020320.5AR
SEPSECS1506NM_016955.4AR
TBC1D232100NM_001199198.3AR
TSEN15390NM_001127394.4AR
TSEN21398NM_025265.4AR
TSEN34933NM_024075.5AR
TSEN541581NM_207346.3AR
VLDLR2622NM_003383.5AR
VPS532499NM_001128159.3AR
VRK11191NM_003384.3AR
ATAD3A1761NM_001170535.3AD, AR
EXOSC8831NM_181503.3AR
OPHN12409NM_002547.3XLR
PCLO14808NM_014510.3AR
SLC25A461257NM_138773.4AR
SMN1885NM_000344.4AR
TOE11488NM_025077.4AR
TUBA1A1356NM_006009.4AD
TUBA81350NM_018943.3AR
TUBB2B1338NM_178012.5AD
TUBB31353NM_006086.4AD
VPS512375
  • Keine OMIM-Gs verknüpft
NM_013265.4AR

Infos zur Erkrankung

Klinischer Kommentar

Hypoplasie/Atrophie und/oder frühe Neurodegeneration des Kleinhirns, Pons. 8 Subtypen, meist AR vererbt

 

Synonyme
  • Allelic: Cone-rod dystrophy (UNC119)
  • Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: Immunodeficiency 13 (UNC119)
  • Allelic: Intellectual disability [MONDO:0001071] (HEATR5B)
  • Allelic: Mental retardation, with/-hout nystagmus (CASK)
  • Allelic: Neurodegeneration with brain iron accumulation 6 (COASY)
  • Allelic: Neuropathy, hereditary motor + sensory, type VIB (SLC25A46)
  • Allelic: Spastic paraplegia 63 (AMPD2)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Cortical dysplasia, complex, with other brain malformations 8 (TUBA8)
  • FG syndrome 4 (CASK)
  • Harel-Yoon syndrome: delayed dev., ID, truncal hypotonia, spasticity, peripheral neuropathy (ATAD3A)
  • Lissencephaly 2, Norman-Roberts type (RELN)
  • Lissencephaly 3 (TUBA1A)
  • Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
  • Pontocerebellar hypoplasia [MONDO:0020135] (HEATR5B)
  • Pontocerebellar hypoplasia type 10 (CLP1)
  • Pontocerebellar hypoplasia type 11 (TBC1D23)
  • Pontocerebellar hypoplasia type 12 (COASY)
  • Pontocerebellar hypoplasia type 13 (VPS51)
  • Pontocerebellar hypoplasia type 1A (VRK1)
  • Pontocerebellar hypoplasia type 1B (EXOSC3)
  • Pontocerebellar hypoplasia type 1C (EXOSC8)
  • Pontocerebellar hypoplasia type 1E (SLC25A46)
  • Pontocerebellar hypoplasia type 2A (TSEN54)
  • Pontocerebellar hypoplasia type 2B (TSEN2)
  • Pontocerebellar hypoplasia type 2C (TSEN34)
  • Pontocerebellar hypoplasia type 2C? [panelapp] (UNC119)
  • Pontocerebellar hypoplasia type 2D (SEPSECS)
  • Pontocerebellar hypoplasia type 2E (VPS53)
  • Pontocerebellar hypoplasia type 2F (TSEN15)
  • Pontocerebellar hypoplasia type 3 (PCLO)
  • Pontocerebellar hypoplasia type 4 (TSEN54)
  • Pontocerebellar hypoplasia type 5 (TSEN54)
  • Pontocerebellar hypoplasia type 6 (RAS2)
  • Pontocerebellar hypoplasia type 7 (TOE1)
  • Pontocerebellar hypoplasia type 8 (CHMP1A)
  • Pontocerebellar hypoplasia type 9 (AMPD2)
  • Pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome, neonatal lethal (ATAD3A)
  • Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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