Joubert Syndrome 21; Jbts21
Description
Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by Akizu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.
Clinical Features
Top most frequent phenotypes and symptoms related to Joubert Syndrome 21; Jbts21
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Ataxia
- Nystagmus
- Strabismus
- Sensorineural hearing impairment
- Ptosis
And another 36 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Joubert Syndrome 21; Jbts21 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Joubert/Meckel-Gruber syndrome Panel.
By Genetic Services Laboratory University of Chicago (United States).
CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...)
View the complete list with 13 more genes
Specificity
4 %
Genes
100 % |
Meckel Gruber Syndrome Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
KIF14, B9D1, TCTN3, TMEM216, TCTN2, CSPP1, TMEM107, TMEM67, B9D2, CEP290, RPGRIP1L, CC2D2A, TMEM231, MKS1, NPHP3
Specificity
7 %
Genes
100 % |
Renal Cystic Disorders Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...)
View the complete list with 55 more genes
Specificity
2 %
Genes
100 % |
Meckel Gruber Syndrome Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
KIF14, B9D1, TCTN3, TMEM216, TCTN2, CSPP1, TMEM107, TMEM67, B9D2, CEP290, RPGRIP1L, CC2D2A, TMEM231, MKS1, NPHP3
Specificity
7 %
Genes
100 % |
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...)
View the complete list with 13 more genes
Specificity
4 %
Genes
100 % |
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
Joubert syndrome (NGS panel for 24 genes).
By CGC Genetics (Portugal).
CEP41, TMEM237, ZNF423, INPP5E, AHI1, TCTN3, EXOC8, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, TMEM138, TMEM67, CEP290, RPGRIP1L, CC2D2A , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
Ciliopathies (NGS panel for 90 genes).
By CGC Genetics (Portugal).
SDCCAG8, SPAG1, CEP41, RSPH1, CFAP298, ARL6, NEK8, TMEM237, TRIM32, NME8, LRRC6, ZNF423, INVS, CEP83, DCDC2, WDR19, CCNO, IFT27, DNAI2, BBS7 , (...)
View the complete list with 70 more genes
Specificity
2 %
Genes
100 % |
You can get up to 33 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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