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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessJoubert syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Joubert syndrome comprising 37 guideline-curated and altogether 39 curated genes according to the clinical signs

ID
JP5180
Number of genes
37 Accredited laboratory test
Examined sequence length
35,5 kb (Core-/Core-canditate-Genes)
98,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

JP5180_DH

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AHI13591NM_017651.5AR
CC2D2A4863NM_001080522.2AR
CEP2907440NM_025114.4AR
CPLANE19864NM_023073.4AR
KIAA05865005NM_001244189.2AR
MKS11680NM_017777.4AR
TMEM672988NM_153704.6AR
ARL13B1287NM_182896.3AR
ARL3549NM_004311.4AR
ARMC93275NM_025139.6AR
B9D1615NM_015681.5AR
B9D2528NM_030578.4AR
C2CD35892NM_015531.6AR
CEP1043059NM_014704.4AR
CEP1202961NM_153223.4AR
CEP411122NM_018718.3AR
CSPP13666NM_024790.6AR
FAM149B12067NM_173348.2AR
HYLS1900NM_145014.3AR
IFT1725250NM_015662.3AR
INPP5E1945NM_019892.6AR
KIAA07532989NM_014804.3AR
KIF74032NM_198525.3AR
NPHP12202NM_000272.5AR
OFD13039NM_003611.3XL
PDE6D453NM_002601.4AR
PIBF12274NM_006346.4AR
RPGRIP1L3948NM_015272.5AR
SUFU1455NM_016169.4AR
TCTN11764NM_001082538.3AR
TCTN22094NM_024809.5AR
TCTN31824NM_015631.6AR
TMEM107514NM_032354.5AR
TMEM138489NM_016464.5AR
TMEM216438NM_001173990.3AR
TMEM2311110NM_001077416.2AR
TMEM2371227NM_001044385.3AR

Informations about the disease

Clinical Comment

Joubert syndrome (JS) may affect many parts of the organism, the symptoms vary even among members of the same family. The diagnostic hallmark is a combination of brain abnormalities, shown on MRI as "molar tooth sign," due to abnormal cerebellar vermis and brainstem structures. Most infants with JS present with hypotonia and ataxia along with hyperpnea or apnea and oculomotor apraxia, accompanied by delayed development and mental retardation. Characteristic facial features include broad forehead, arched eyebrows, ptosis, hypertelorism, low-set ears and triangular mouth. The condition is sometimes associated with retinal dystrophy and coloboma, polycystic kidneys and nephronophthisis, liver fibrosis, oral hamartomas, polydactyly or endocrine problems. All cases in which the molar sign occurs are usually considered as JS. They are caused by mutations in at least 34 genes encoding primary cilia proteins and account for >60->90% of JS cases. Pathogenic variants have also been identified in diseases with clinical findings that only overlap with JS. In many cases, it is difficult to determine whether a previously recognized disorder is truly distinct from JS as an allelic disorder or whether it is part of the JS spectrum. JS is usually inherited in an autosomal recessive manner, with rare cases (caused by mutations in one gene) inherited in an X-linked recessive manner. Because the diagnostic yield is not entirely complete, a negative molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1325/

 

Synonyms
  • Alias: Cerebellooculorenal syndrome
  • Alias: Cerebellooculorenal syndrome 1
  • Alias: Cerebelloparenchymal disorder IV
  • Alias: Joubert-Boltshauser syndrome
  • Allelic: Acrocallosal syndrome (KIF7)
  • Allelic: Basal cell naevus syndrome (SUFU)
  • Allelic: Cone-rod dystrophy 20 (POC1B)
  • Allelic: Hydrolethalus syndrome 2 (KIF7)
  • Allelic: Leber congenital amaurosis 10 (CEP290)
  • Allelic: Medulloblastoma, desmoplastic (SUFU)
  • Allelic: Meningioma, familial, susceptibility to (SUFU)
  • Allelic: Mental retardation, truncal obesity, retinal dystrophy + micropenis (INPP5E)
  • Allelic: Nephronophthisis 1, juvenile (NPHP1)
  • Allelic: Nephronophthisis 11 (TMEM67)
  • Allelic: Nephronophthisis 12 (TTC21B)
  • Allelic: Nephronophthisis 14 (ZNF423)
  • Allelic: Nephronophthisis 3 (NPHP3)
  • Allelic: Retinitis pigmentosa 23 (OFD1)
  • Allelic: Retinitis pigmentosa 71 (IFT172)
  • Acrocallosal syndrome (KIF7)
  • Al-Gazali-Bakalinova syndrome (KIF7)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 14 (CEP290)
  • Bardet-Biedl syndrome 14, modifier of (TMEM67)
  • COACH syndrome 1 (TMEM67)
  • COACH syndrome 2 (CC2D2A)
  • COACH syndrome 3 (RPGRIP1L)
  • Cone-rod dystrophy 20 (POC1B)
  • Greig cephalopolysyndactyly syndrome (GLI3)
  • Hydrolethalus syndrome (HYLS1)
  • Hydrolethalus syndrome 2 (KIF7)
  • 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 (C5orf42 syn. CPLANE1)
  • Joubert syndrome 18 (TCTN3)
  • Joubert syndrome 19 (ZNF423)
  • Joubert syndrome 2 (TMEM216)
  • Joubert syndrome 20 (TMEM231)
  • Joubert syndrome 21 (CSPP1)
  • Joubert syndrome 22 (PDE6D)
  • Joubert syndrome 23 (KIAA0586)
  • Joubert syndrome 24 (TCTN2)
  • Joubert syndrome 25 (CEP104)
  • Joubert syndrome 26 (KATNIP syn. KIAA0556)
  • Joubert syndrome 27 (B9D1)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 29 (TMEM107)
  • Joubert syndrome 3 (AHI1)
  • Joubert syndrome 30 (ARMC9)
  • Joubert syndrome 31 (CEP120)
  • Joubert syndrome 32 (SUFU)
  • Joubert syndrome 33 (PIBF1)
  • Joubert syndrome 34 (B9D2)
  • Joubert syndrome 35 (ARL3)
  • Joubert syndrome 36 (FAM149B1)
  • Joubert syndrome 37 (TOGARAM1)
  • Joubert syndrome 4 (NPHP1)
  • Joubert syndrome 5 (CEP290)
  • Joubert syndrome 6 (TMEM67)
  • Joubert syndrome 7 (RPGRIP1L)
  • Joubert syndrome 8 (ARL13B)
  • Joubert syndrome 9 (CC2D2A)
  • Meckel syndrome 1 (MKS1)
  • Meckel syndrome 10 (B9D2)
  • Meckel syndrome 11 (TMEM231)
  • Meckel syndrome 13 (TMEM107)
  • Meckel syndrome 2 (TMEM216)
  • Meckel syndrome 3 (TMEM67)
  • Meckel syndrome 4 (CEP290)
  • Meckel syndrome 5 (RPGRIP1L)
  • Meckel syndrome 6 (CC2D2A)
  • Meckel syndrome 7 (NPHP3)
  • Meckel syndrome 8 (TCTN2)
  • Meckel syndrome 9 (B9D1)
  • Orofaciodigital syndrome I (OFD1)
  • Orofaciodigital syndrome IV (TCTN3)
  • Orofaciodigital syndrome VI (CPLANE1 syn. C5orf42)
  • Orofaciodigital syndrome XIV (C2CD3)
  • Orofaciodigital syndrome XV (KIAA0753)
  • Orofaciodigital syndrome XVI (TMEM107)
  • Orofaciodigital syndrome XVII (INTU)
  • Pallister-Hall syndrome (GLI3)
  • Polydactyly, postaxial, types A1 + B (GLI3)
  • Polydactyly, preaxial, type IV (GLI3)
  • RHYNS syndrome (TMEM67)
  • Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
  • Retinitis pigmentosa 71 (IFT172)
  • Retinitis pigmentosa 83 (ARL3)
  • Senior-Loken syndrome (POC1B)
  • Senior-Loken syndrome 1 (NPHP1)
  • Senior-Loken syndrome 6 (CEP290)
  • Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
  • Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
  • Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
  • Short-rib thoracic dysplasia 20 with polydactyly (INTU)
  • Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
Heredity, heredity patterns etc.
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined