Genomics Precision Diagnostic > Prenatal > Joubert Syndrome and Related Disorders Precision Panel

Joubert Syndrome and Related Disorders Precision Panel

Joubert Syndrome (JS) and Related Disorders (JSRD) are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities.

Overview

Joubert Syndrome (JS) and Related Disorders (JSRD) are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Cilia play a crucial role in appropriate axonal growth and connectivity which are essential for functional wiring of the brain. The classic midbrain-hindbrain malformation is a hallmark image finding known as molar tooth sign. Joubert Syndrome and Related Disorders are a group of clinically and genetically heterogeneous disorders involving ciliopathy-related genes. Therefore, clinical manifestations have multiorgan involvement, mainly retinal dystrophy, hepatic fibrosis and polydactyly, among others. With the exception of rare X-linked recessive cases, Joubert Syndrome and Related Disorders follow an autosomal recessive inheritance pattern.
The Igenomix Joubert Syndrome and Related Disorders Precision Panel can serve as a screening and diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Joubert Syndrome and Related Disorders Precision Panel is indicated for those patients with clinical and/or imaging findings suggestive of Joubert Syndrome and Related Disorders presenting with the following manifestations:
- Hypotonia
- Developmental delay
- Ataxia
- Abnormal eye and tongue movements
- Respiratory control disturbances
- Cleft lip or palate
- Seizures

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment involving a multidisciplinary team focusing on respiratory and feeding problems in neonates and infants. Cognitive and behavioral assessments with adequate neuropsychological rehabilitation.
Risk assessment of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.
Identification of molecular defect in couples at risk allowing prenatal genetic tasting where neuroimaging may be uninformative early in the pregnancy.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20x)	HGMD**
*AHI1*	Joubert Syndrome With Ocular Defect, Retinitis Pigmentosa	AR	96.79	85 of 97
*ARL13B*	Joubert Syndrome	AR	99.77	10 of 10
*ARL3*	Joubert Syndrome, Retinitis Pigmentosa	AD,AR	99.99	4 of 4
*ARMC9*	Joubert Syndrome	AR	99.95	10 of 10
*B9D1*	Joubert Syndrome, Meckel Syndrome Type 9	AR	90.23	11 of 11
*B9D2*	Meckel Syndrome Type 10	AR	84.81	4 of 5
*C2CD3*	Orofaciodigital Syndrome	AR	97.25	18 of 18
*CC2D2A*	Coach Syndrome, Meckel Syndrome Type 6, Joubert Syndrome	AR	99.43	98 of 100
*CEP104*	Joubert Syndrome	AR	99.89	9 of 9
*CEP120*	Joubert Syndrome, Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome	AR	99.8	9 of 9
CEP164	Nephronophthisis, Senior-Loken Syndrome	AR	99.98	10 of 10
*CEP290*	Bardet-Biedl Syndrome, Joubert Syndrome, Leber Congenital Amaurosis, Meckel Syndrome Type 4, Senior- Loken Syndrome	AR	96.47	293 of 327
*CEP41*	Joubert Syndrome	AR	100	17 of 17
*CFAP410*	Retinal Dystrophy With or Without Macular Staphyloma, Axial Spondylom- etaphyseal Dysplasia, Amyotrophic Lateral Sclerosis, Cone- Rod Dystrophy	AR	–	–
*CPLANE1*	Joubert Syndrome, Varadi-Papp Syndrome, Monomelic Amyotrophy, Orofaciodigital Syndrome Type 6	AR	na	na
*CSPP1*	Joubert Syndrome, Meckel Syndrome	AR	98.32	29 of 30
*FAM149B1*	Joubert Syndrome, Orofaciodigital Syndrome	AR	99.94	2 of 2
*HYLS1*	Hydrolethalus Syndrome, Joubert Syndrome	AR	100	2 of 2
*INPP5E*	Joubert Syndrome, Mental Retardation	AR	99.89	56 of 56
*KATNIP*	Joubert Syndrome	AR	99.97	7 of 7
*KIAA0586*	Joubert Syndrome, Short-Rib Thoracic Dysplasia With Polydactyly	AR	99.84	31 of 32
*KIAA0753*	Orofaciodigital Syndrome	AR	97.73	7 of 7
*KIF7*	Acrocallosal Syndrome, Hydrolethalus Syndrome, Macrocephaly, Multiple Epiphyseal Dysplasia, Orofaciodigital Syndrome	AR	94.91	47 of 50
*MKS1*	Bardet-Biedl Syndrome Joubert Syndrome, Meckel Syndrome	AR	99.98	49 of 49
*NPHP1*	Nephronophthisis, Senior-Loken Syndrome, Bardet-Biedl Syndrome, Joubert Syndrome With Renal Defect	AR	100	58 of 59
*NPHP3*	Meckel Syndrome, Nephronophthisis, Renal-Hepatic- Pancreatic Dysplasia, Senior-Loken Syndrome	AR	99.99	84 of 84
*OFD1*	Joubert Syndrome, Orofaciodigital Syndrome, Retinitis Pigmentosa, Simpson-Golabi– Behmel Syndrome, Primary Ciliary Dyskinesia	X,XR,XD,G	98.09	NA of NA
*PDE6D*	Joubert Syndrome, Orofaciodigital Syndrome Type 6	AR	100	2 of 2
*PIBF1*	Joubert Syndrome	AR	99.83	7 of 7
*RPGRIP1L*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.96	52 of 52
*SUFU*	Basal Cell Nevus Syndrome, JoubertSyndrome; Medulloblastoma, Acrocallosal Syndrome, Gorlin Syndrome, Microform Holoprosencephaly	AD,AR	99.99	43 of 43
*TCTN1*	Joubert Syndrome	AR	94.98	10 of 10
*TCTN2*	Joubert Syndrome, Meckel Syndrome	AR	100	14 of 14
*TCTN3*	Joubert Syndrome, Orofaciodigital Syndrome	AR	99.99	13 of 13
*TMEM107*	Meckel Syndrome, Orofaciodigital Syndrome	AR	100	3 of 3
*TMEM138*	Joubert Syndrome	AR	99.94	9 of 9
*TMEM216*	Joubert Syndrome; Meckel Syndrome; Orofaciodigital Syndrome Type 6	AR	98.74	8 of 8
*TMEM231*	Joubert Syndrome; Meckel Syndrome; Orofaciodigital Syndrome Type 3	AR	98.63	20 of 21
*TMEM237*	Joubert Syndrome	AR	100	11 of 11
*TMEM67*	Bardet-Biedl Syndrome 14; Coach Syndrome; Joubert Syndrome 6; Meckel Syndrome, Type 3; Nephron- ophthisis 11; Rhyns Syndrome	AR	96.93	177 of 179
*TTC21B*	Asphyxiating Thoracic Dystrophy 4; Nephron- ophthisis 12; Joubert Syndrome 11; Jeune Syndrome	AD,AR	100	67 of 67
*ZNF423*	Nephronophthisis; Joubert Syndrome	AD,AR	100	10 of 10

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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Joubert Syndrome and Related Disorders Precision Panel

Joubert Syndrome (JS) and Related Disorders (JSRD) are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

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