Joubert Syndrome 33; Jbts33

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015).For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Genes related to Joubert Syndrome 33; Jbts33

PIBF1

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Clinical Features

Phenotypes and symptoms related to Joubert Syndrome 33; Jbts33

Global developmental delay
Generalized hypotonia
Ataxia
Cognitive impairment
Polydactyly
Apnea
Abnormality of the kidney
Retinal dystrophy
Renal cyst
Molar tooth sign on MRI

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 33; Jbts33 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...) View the complete list with 18 more genes Panel complete gene list CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, RPGRIP1L, CC2D2A, IFT172, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D Specificity 3 % Genes 100 %
Joubert syndrome and related disorders NGS panel. By Connective Tissue Gene Tests (United States). CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...) View the complete list with 17 more genes Panel complete gene list CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, RPGRIP1L, CC2D2A, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D Specificity 3 % Genes 100 %
Joubert syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...) View the complete list with 17 more genes Panel complete gene list CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, RPGRIP1L, CC2D2A, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D Specificity 3 % Genes 100 %
Joubert syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests (United States). CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1 , (...) View the complete list with 17 more genes Panel complete gene list CEP41, TMEM237, SUFU, ZNF423, KIF14, KIAA0586, ARMC9, INPP5E, AHI1, PIBF1, B9D1, TCTN3, C2CD3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, RPGRIP1L, CC2D2A, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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