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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessIntellectual deficit + (ponto-)cerebellar hypoplasia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Intellectual deficit + (ponto-)cerebellar hypoplasia comprising 1 guideline-curated, another 15 core candidate and altogether 74 curated genes according to the clinical suspicion

ID
MP7899
Number of genes
39 Accredited laboratory test
Examined sequence length
28,6 kb (Core-/Core-canditate-Genes)
80,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
AMPD22478AR
CASK2766XL
CHMP1A591AR
CLP11086AR
EXOSC3828AR
OPHN12409XLR
RARS21737AR
SEPSECS1506AR
SNX142841AR
TBC1D232100AR
TSEN21398AR
TSEN34933AR
TSEN541581AR
VLDLR2622AR
VPS532499AR
VRK11191AR
ATXN23462AD
ATXN72679AD
CRPPA1356AR
DKC11545XLR
EXOSC8831AR
FKRP1488AR
FKTN1386AR
ITPR18088AD, AR
LARGE12271AR
MINPP1939AR
PMM2741AR
POMGNT11983AR
POMT12244AR
POMT22253AR
PPIL1505
  • No OMIM-Gs linked
AD
RELN10383AR
TOE11488AR
TSEN15390AR
TUBA1A1356AD
TUBA81350AR
TUBB2B1338AD
TUBB31353AD
VPS512375
  • No OMIM-Gs linked
AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_MP7899

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q07.8

Bioinformatics and clinical interpretation

No text defined