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Klinische FragestellungKleinhirn-Hypoplasie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Kleinhirn-Hypoplasie mit 17 "core candidtae"-Genen bzw. insgesamt >125 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
KP9124
Anzahl Gene
60 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
35,6 kb (Core-/Core-canditate-Gene)
170,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
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
EXOSC3828NM_016042.4AR
OPHN12409NM_002547.3XLR
RARS21737NM_020320.5AR
RELN10383NM_005045.4AR
SEPSECS1506NM_016955.4AR
TSEN21398NM_025265.4AR
TSEN34933NM_024075.5AR
TSEN541581NM_207346.3AR
TUBA1A1356NM_006009.4AD
TUBB2B1338NM_178012.5AD
TUBB31353NM_006086.4AD
VLDLR2622NM_003383.5AR
VRK11191NM_003384.3AR
ADGRG12064NM_005682.7AR
ATAD3A1761NM_001170535.3AR
ATP8A23567NM_016529.6AR
B3GALNT21503NM_152490.5AR
B4GAT11248NM_006876.3AR
CA8873NM_004056.6AR
CACNA1G6945NM_018896.5AD
CDK5783NM_001164410.3AR
COASY1695NM_025233.7AR
CRPPA1356NM_001101426.4AR
CWF19L11617NM_018294.6AR
DAG12688NM_004393.6n.k.
DCC4344NM_005215.4AR
DKC11545NM_001363.5XLR
EXOSC8831NM_181503.3AR
FKRP1488NM_024301.5AR
FKTN1386NM_001079802.2AR
GMPPB1164NM_013334.4AR
HEATR5B6251
  • Keine OMIM-Gs verknüpft
NM_019024.3AR
ITPR18088NM_002222.7AD, AR
KCNC32274NM_004977.3AD
LARGE12271NM_004737.7AR
MACF116293NM_012090.5AD
PCLO14808NM_014510.3AR
PHGDH1602NM_006623.4AR
POMGNT11983NM_017739.4AR
POMGNT21743NM_032806.6AR
POMT12244NM_007171.4AR
POMT22253NM_013382.7AR
PTF1A987NM_178161.3AR
ROBO34161NM_022370.4AR
RXYLT11355NM_014254.3AR
SNAP29777NM_004782.4AR
SNX142841NM_153816.6AR
SPTBN27173NM_006946.4AD, AR
TBC1D232100NM_001199198.3AR
TERT3399NM_198253.3AR
TINF21356NM_001099274.3AD
TOE11488NM_025077.4AR
TSEN15390NM_001127394.4AR
VPS35L3462NM_020314.7AR
VPS532499NM_001128159.3AR
WDR815826NM_001163809.2AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe heterogener Erkrankungen

 

Synonyme
  • Alias: Zerebellare Hypoplasie
  • Allelic: Axenfeld-Rieger syndrome, type 3 (FOXC1)
  • Allelic: COACH syndrome 2 (CC2D2A)
  • Allelic: Cardiomyopathy, dilated, 1X (FKTN)
  • Allelic: Colorectal cancer, somatic (DCC)
  • Allelic: Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
  • Allelic: Dyskeratosis congenita, AD 2 (TERT)
  • Allelic: Dyskeratosis congenita, AD 3 (TINF2)
  • Allelic: Ehlers-Danlos syndrome, vascular type (COL3A1)
  • Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
  • Allelic: Esophageal carcinoma, somatic (DCC)
  • Allelic: FG syndrome 4 (CASK)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: Gastrointestinal defects + immunodeficiency syndrome 2 (PI4KA)
  • Allelic: Heterotaxy, visceral, 1, X (ZIC3)
  • Allelic: Hypertriglyceridaemia [panelapp] (CELSR2)
  • Allelic: Intellectual disability [MONDO:0001071] (HEATR5B)
  • Allelic: Leukemia, acute myeloid (TERT)
  • Allelic: Melanoma, cutaneous malignant, 9 (TERT)
  • Allelic: Mental retardation, with/-out nystagmus (CASK)
  • Allelic: Muscular dystrophy-dystroglycanopathy (cong. +/- mental retardation), type B, 5(FKRP)
  • Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 14 (GMPPB)
  • Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 2 (POMT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 6 (LARGE1)
  • Allelic: Muscular dystrophy-dystroglycanopathy [cong. without mental retardation], type B, 4 (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 14 (GMPPB)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 2 (POMT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 4 (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 5 (FKRP)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 7 (CRPPA)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 8 (POMGNT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 9 [DAG1]
  • Allelic: Neuropathy, hereditary motor + sensory, type VIB (SLC25A46)
  • Allelic: Osteogenesis imperfecta, type XV (WNT1)
  • Allelic: Pancreatic agenesis 2 (PTF1A)
  • Allelic: Polymicrogyria, bilateral perisylvian (ADGRG1)
  • Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
  • Allelic: Retinitis pigmentosa 76 (POMGNT1)
  • Allelic: Retinitis pigmentosa 93 (CC2D2A)
  • Allelic: Short-rib thoracic dysplasia 4 +/- polydactyly (TTC21B)
  • Allelic: Thyroid carcinoma, follicular (MINPP1)
  • Alkuraya-Kucinskas syndrome (BLTP1)
  • Allelic: VACTERL association, XL (ZIC3)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 20 (IFT172)
  • CEBALID syndrome (MN1)
  • COACH syndrome 1 (TMEM67)
  • Cerebellar ataxia + mental retardation with/-out quadrupedal locomotion 3 (CA8)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 2 (WDR81)
  • Cerebellar ataxia, mental retardation + dysequilibrium syndrome 4 (ATP8A2)
  • Cerebellar dysfunction, impaired intellectual development, hypogonadotropic hypogonadism (PRDM13)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Cerebellofaciodental syndrome (BRF1)
  • Cerebral dysgenesis, neuropathy, ichthyosis + palmoplantar keratoderma syndrome (SNAP29)
  • Chudley-McCullough syndrome (GPSM2)
  • Congenital disorder of glycosylation, type Ia (PMM2)
  • Congenital disorder of glycosylation, type Iq (SRD5A3)
  • 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 9 (CTNNA2)
  • Dandy Walker Syndrome [panelapp] (FOXC1)
  • Developmental + epileptic encephalopathy 66 (PACS2)
  • Dyskeratosis congenita, AR 4 (AR)
  • Dyskeratosis congenita, XL (DKC1)
  • Fanconi anemia, complementation group B (FANCB)
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2 (DCC)
  • Gillespie syndrome (ITPR1)
  • Harel-Yoon syndrome (ATAD3A)
  • Holoprosencephaly 5 (ZIC2)
  • Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
  • Hydrocephalus, focal epilepsy + hemiparesis [panelapp] (NID1)
  • Hypogonadotropic hypogonadism 20 with or without anosmia (FGF17)
  • Intellectual developmental disorder, X-linked syndromic, Snijders Blok type (DDX3X)
  • Jeune syndrome (TTC21B)
  • Joubert syndrome 1 (INPP5E)
  • Joubert syndrome 10 (OFD1)
  • Joubert syndrome 12 (KIF7)
  • Joubert syndrome 13 (TCTN1)
  • Joubert syndrome 14 (TMEM237)
  • Joubert syndrome 15 (CEP41)
  • Joubert syndrome 16 (TMEM138)
  • Joubert syndrome 17 (CPLANE1)
  • Joubert syndrome 18 (TCTN3)
  • Joubert syndrome 19 (ZNF423)
  • Joubert syndrome 2 (TMEM216)
  • Joubert syndrome 20 (TMEM231)
  • Joubert syndrome 21 (CSPP1)
  • Joubert syndrome 23 (KIAA0586)
  • Joubert syndrome 24 (TCTN2)
  • Joubert syndrome 25 (CEP104)
  • Joubert syndrome 26 (KATNIP)
  • Joubert syndrome 27 (B9D1)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 29 (TMEM107)
  • Joubert syndrome 3 (AHI1)
  • Joubert syndrome 30 (ARMC9)
  • Joubert syndrome 32 (SUFU)
  • Joubert syndrome 34 (B9D2)
  • Joubert syndrome 38 (KIAA0753)
  • Joubert syndrome 5 (CEP290)
  • Joubert syndrome 6 (TMEM67)
  • Joubert syndrome 7 (RPGRIP1L)
  • Joubert syndrome 8 (ARL13B)
  • Joubert syndrome 9 (CC2D2A)
  • Kahrizi syndrome (SRD5A3)
  • Leukodystrophy, hypomyelinating, 9 (RARS1)
  • Lissencephaly 2 [Norman-Roberts type] (RELN)
  • Lissencephaly 3 (TUBA1A)
  • Lissencephaly 8 (TMTC3)
  • Lissencephaly 9 with complex brainstem malformation (MACF1)
  • Macrothrombocytopenia, isolated, 2, AD (TUBA8)
  • Meckel syndrome 11 (TMEM231)
  • Meckel syndrome 13 (TMEM107)
  • Meckel syndrome 2 (TMEM216)
  • Meckel syndrome 3 (TMEM67)
  • Meckel syndrome 6 (CC2D2A)
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia + cortical malformations (MAST1)
  • Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
  • Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
  • Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
  • Mirror movements 1 and/or agenesis of the corpus callosum (DCC)
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 (RXYLT1)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 11 (B3GALNT2)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 13 (B4GAT1)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 14 )GMPPB)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 7 (CRPPA)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 8 POMGNT2)
  • Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 9 (DAG1)
  • Neu-Laxova syndrome 1 (PHGDH)
  • Neurodegeneration with brain iron accumulation 6 (COASY)
  • Neurodevelopmental disorder with microcephaly, arthrogryposis + structural brain anomalies (SMPD4)
  • Neurodevelopmental disorder with microcephaly, arthrogryposis, structural brain anomalies (SMPD4)
  • Orofaciodigital syndrome I (OFD1)
  • Orofaciodigital syndrome IV (TCTN3)
  • Orofaciodigital syndrome VI (CPLANE1)
  • Orofaciodigital syndrome XIV (C2CD3)
  • Orofaciodigital syndrome XVI (TMEM107)
  • Pancreatic + cerebellar agenesis (PTF1A)
  • Phosphoglycerate dehydrogenase deficiency (PHGDH)
  • Polymicrogyria +/- vascular-type EDS (COL3A1)
  • Polymicrogyria with optic nerve hypoplasia (TUBA8)
  • Polymicrogyria, bilateral frontoparietal (ADGRG1)
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia + arthrogryposis (PI4KA)
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (PI4KA)
  • Pontocerebellar hypoplasia [MONDO:0020135] (HEATR5B)
  • Pontocerebellar hypoplasia type 10 (CLP1)
  • Pontocerebellar hypoplasia type 11 (TBC1D23)
  • Pontocerebellar hypoplasia type 12 (COASY)
  • Pontocerebellar hypoplasia type 16 (MINPP1)
  • Pontocerebellar hypoplasia type 17 (PRDM13)
  • 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 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 (RARS2)
  • Pontocerebellar hypoplasia type 7 (TOE1)
  • Pontocerebellar hypoplasia type 8 (CHMP1A)
  • Pontocerebellar hypoplasia, hypotonia + respiratory insufficiency syndrome, neonatal lethal (ATAD3A)
  • Poretti-Boltshauser syndrome (LAMA1)
  • Revesz syndrome (TINF2)
  • Ritscher-Schinzel syndrome 3 (C16orf62)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Spastic paraplegia 63 (AMPD2)
  • Spastic paraplegia 84, AR (PI4KA)
  • Spinocerebellar ataxia 13 (KCNC3)
  • Spinocerebellar ataxia 15 (ITPR1)
  • Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
  • Spinocerebellar ataxia 42 (CACNA1G)
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
  • Spinocerebellar ataxia 5 (SPTBN2)
  • Spinocerebellar ataxia, AR 14 (SPTBN2)
  • Spinocerebellar ataxia, AR 17 (CWF19L1)
  • Spinocerebellar ataxia, AR 20 (SNX14)
  • Structural brain anomalies with impaired intellectual development + craniosynostosis (ZIC1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q04.3

Bioinformatik und klinische Interpretation

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