©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungMentale 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" und insgesamt 71 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP7899
Anzahl Gene
39 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
28,6 kb (Core-/Basis-Gene)
80,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AMPD22478AR
CASK2766XL
CHMP1A591AR
CLP11086AR
EXOSC3828AR
OPHN12409XLR
RARS21737AR
SEPSECS1506AR
SNX142841AR
TBC1D232100AR
TSEN21398AR
TSEN34933AR
TSEN541581AR
VLDLR2622AR
VPS532499AR
VRK11191AR
ATXN23462AD
ATXN72679AD
CRPPA1356AR
DKC11545XLR
EXOSC8831AR
FKRP1488AR
FKTN1386AR
ITPR18088AD und/oder AR
LARGE12271AR
MINPP1939AD und/oder SMu
PMM2741AR
POMGNT11983AR
POMT12244AR
POMT22253AR
PPIL1505
  • Keine OMIM-Gs verknüpft
AR
RELN10383AD und/oder AR
TOE11488AR
TSEN15390AR
TUBA1A1356AD
TUBA81350AR
TUBB2B1338AD
TUBB31353AD
VPS512375
  • Keine OMIM-Gs verknüpft
AR

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
  • AD und/oder AR
  • AD und/oder SMu
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q07.8

Bioinformatik und klinische Interpretation

Kein Text hinterlegt