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Klinische FragestellungMentale Retardierung bei [ponto-]zerebellärer Hypoplasie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Mentale Retardierung bei (ponto-)zerebellärer Hypoplasie mit 1 Leitlinien-kuratierten sowie 15 "core candidate"-Genen sowie insgesamt 74 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP7899
Anzahl Gene
49 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
28,6 kb (Core-/Core-canditate-Gene)
106,6 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
AMPD22478NM_001368809.2AR
CASK2766NM_003688.3XL
CHMP1A591NM_002768.5AR
CLP11086NM_001142597.2AR
EXOSC3828NM_016042.4AR
OPHN12409NM_002547.3XLR
RARS21737NM_020320.5AR
SEPSECS1506NM_016955.4AR
SNX142841NM_153816.6AR
TBC1D232100NM_001199198.3AR
TSEN21398NM_025265.4AR
TSEN34933NM_024075.5AR
TSEN541581NM_207346.3AR
VLDLR2622NM_003383.5AR
VPS532499NM_001128159.3AR
VRK11191NM_003384.3AR
AFG3L22394NM_006796.3AD, AR
ATP8A23567NM_016529.6AR
ATXN23462NM_002973.4AD
ATXN72679NM_000333.4AD
CA8873NM_004056.6AR
CACNA1G6945NM_018896.5AD
CAMTA15022NM_015215.4AD
CRPPA1356NM_001101426.4AR
DKC11545NM_001363.5XLR
EXOSC8831NM_181503.3AR
FKRP1488NM_024301.5AR
FKTN1386NM_001079802.2AR
ITPR18088NM_002222.7AD, AR
KCNC32274NM_004977.3AD
LARGE12271NM_004737.7AR
MINPP1939NM_001178117.2AR
PAX61269NM_000280.5AD
PCYT21269NM_001184917.3AR
PMM2741NM_000303.3AR
POMGNT11983NM_017739.4AR
POMT12244NM_007171.4AR
POMT22253NM_013382.7AR
PPIL1505NM_016059.5AR
RELN10383NM_005045.4AR
SLC25A461257NM_138773.4AR
TOE11488NM_025077.4AR
TSEN15390NM_001127394.4AR
TUBA1A1356NM_006009.4AD
TUBA81350NM_018943.3AR
TUBB2B1338NM_178012.5AD
TUBB31353NM_006086.4AD
TUBB4A1335NM_006087.4AD
VPS512375
  • Keine OMIM-Gs verknüpft
NM_013265.4AR

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_MP7899

 

Synonyme
  • Alias: Intellectual disability
  • Alias: Psycho-motor retardation
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
  • Allelic: Aniridia (PAX6)
  • Allelic: Anterior segment dysgenesis 5, multiple subtypes (PAX6)
  • Allelic: Cardiomyopathy, dilated, 1X (FKTN)
  • Allelic: Cataract with late-onset corneal dystrophy (PAX6)
  • Allelic: Coloboma of optic nerve (PAX6)
  • Allelic: Coloboma, ocular (PAX6)
  • Allelic: Dyskeratosis congenita, XL (DKC1)
  • Allelic: Dystonia 4, torsion, AD (TUBB4A)
  • Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: Foveal hypoplasia 1 (PAX6)
  • Allelic: Hydrocephalus, congenital, 1 (CCDC88C)
  • Allelic: Keratitis (PAX6)
  • Allelic: Morning glory disc anomaly (PAX6)
  • 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, 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: Myoclonus, familial, 2 (SCN8A)
  • Allelic: Optic atrophy 12 (AFG3L2)
  • Allelic: Optic atrophy 9 (ACO2)
  • Allelic: Optic nerve hypoplasia (PAX6)
  • Allelic: Pancreatic agenesis 2 (PTF1A)
  • Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
  • Allelic: Retinitis pigmentosa 76 (POMGNT1)
  • Allelic: Seizures, benign familial infantile, 5 (SCN8A)
  • Allelic: Thyroid carcinoma, follicular (MINPP1)
  • Aniridia, cerebellar ataxia + mental retardation [panelapp] (PAX6)
  • 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 ataxia, nonprogressive, with mental retardation (CAMTA1)
  • Cerebellar atrophy, visual impairment + psychomotor retardation (EMC1)
  • Cerebellar hypoplasia + mental retardation with/-out quadrupedal locomotion 1 (VLDLR)
  • Cerebellar, ocular, craniofacial + genital syndrome (MAB21L1)
  • Cerebellofaciodental syndrome (BRF1)
  • Cognitive impairment with/-out cerebellar ataxia (SCN8A)
  • Congenital disorder of glycosylation, type Ia (PMM2)
  • 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)
  • Developmental + epileptic encephalopathy 13 (SCN8A)
  • Developmental + epileptic encephalopathy 28(WWOX)
  • Developmental + epileptic encephalopathy 66 (PACS2)
  • Gillespie syndrome (ITPR1)
  • Hydrocephalus, congenital, 3, with brain anomalies (WDR81)
  • Hypomyelination + atrophy of basal ganglia + cerebellum [panelapp] (TUBB4A)
  • Infantile cerebellar-retinal degeneration (ACO2)
  • Intellectual developmental disorder with/-out epilepsy or cerebellar ataxia (RORA)
  • Intellectual disability [MONDO:0001071] (HEATR5B)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Lissencephaly 2 [Norman-Roberts type] (RELN)
  • Lissencephaly 3 (TUBA1A)
  • Mega-corpus-callosum syndrome with cerebellar hypoplasia + cortical malformations (MAST1)
  • Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
  • Microcephaly, progressive, seizures, cerebral + cerebellar atrophy (QARS)
  • Muscular dystrophy-dystroglycanopathy (cong. with brain + eye anomalies), type A, 1 (POMT1)
  • 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 mental retardation), type B, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy (cong. with mental retardation), type B, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy (cong. with/-out mental retard.), type B, 5 (FKRP)
  • Neurodevelopmental disorder with microcephaly, arthrogryposis + structural brain anomalies (SMPD4)
  • Pancreatic + cerebellar agenesis (PTF1A)
  • Pontocerebellar hypoplasia [MONDO:0020135] (HEATR5B)
  • Pontocerebellar hypoplasia [panelapp] (MINPP1)
  • Pontocerebellar hypoplasia type 1A (VRK1)
  • Pontocerebellar hypoplasia type 2A (TSEN54)
  • Pontocerebellar hypoplasia type 2B (TSEN2)
  • Pontocerebellar hypoplasia type 2C (TSEN34)
  • Pontocerebellar hypoplasia type 2D (SEPSECS)
  • Pontocerebellar hypoplasia type 4 (TSEN54)
  • Pontocerebellar hypoplasia type 5 (TSEN54)
  • Pontocerebellar hypoplasia, type 10 (CLP1)
  • Pontocerebellar hypoplasia, type 11 (TBC1D23)
  • Pontocerebellar hypoplasia, type 13 (VPS51)
  • Pontocerebellar hypoplasia, type 14 (PPIL1)
  • Pontocerebellar hypoplasia, type 1B (EXOC3)
  • Pontocerebellar hypoplasia, type 1C (EXOSC8)
  • Pontocerebellar hypoplasia, type 2E (VPS53)
  • Pontocerebellar hypoplasia, type 2F (TSEN15)
  • Pontocerebellar hypoplasia, type 7 (TOE1)
  • Pontocerebellar hypoplasia, type 8 (CHMP1A)
  • Pontocerebellar hypoplasia, type 9 (AMPD2)
  • Poretti-Boltshauser syndrome (LAMA1)
  • Spastic ataxia 5, AR (AFG3L2)
  • Spastic paraplegia 63 (AMPD2)
  • Spastic paraplegia 82, AR (PCYT2)
  • Spinocerebellar ataxia 13 (KCNC3)
  • Spinocerebellar ataxia 15 (ITPR1)
  • Spinocerebellar ataxia 2 (ATXN2)
  • Spinocerebellar ataxia 21 (TMEM240)
  • Spinocerebellar ataxia 28 (AFG3L2)
  • Spinocerebellar ataxia 29, congenital nonprogressive (ITPR1)
  • Spinocerebellar ataxia 40 (CCDC88C)
  • Spinocerebellar ataxia 42 (CACNA1G)
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
  • Spinocerebellar ataxia 44 (GRM1)
  • Spinocerebellar ataxia 5 (SPTBN2)
  • Spinocerebellar ataxia 7 (ATXN7)
  • Spinocerebellar ataxia, AR 12 (WWOX)
  • Spinocerebellar ataxia, AR 13 (GRM1)
  • Spinocerebellar ataxia, AR 14 (SPTBN2)
  • Spinocerebellar ataxia, AR 17 (CWF19L1)
  • Spinocerebellar ataxia, AR 18 (GRID2)
  • Spinocerebellar ataxia, AR 23 (TDP2)
  • Spinocerebellar ataxia, AR 30 (PIRM1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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