Joubert Syndrome 30; Jbts30

Table of contents:

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

Genes related to Joubert Syndrome 30; Jbts30

ARMC9

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Joubert Syndrome 30; Jbts30

Intellectual disability
Seizures
Global developmental delay
Ptosis
Delayed speech and language development
Polydactyly
Apnea
Abnormality of the eye
Abnormality of eye movement
Postaxial polydactyly

And another 8 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 30; Jbts30 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 %
ARMC9. By Fulgent Genetics Fulgent Genetics (United States). ARMC9 Specificity 100 % Genes 100 %
Retinal Dystrophy Panel. By Blueprint Genetics (Finland). RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3 , (...) View the complete list with 239 more genes Panel complete gene list RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3, TREX1, CEP41, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1, WFS1, ARL6, RPGRIP1, CDH23, CA4, CABP4, ATOH7, CACNA1F, PRDM13, IFT81, C1QTNF5, ELOVL4, TMEM237, CDHR1, PCDH15, CAPN5, PRPF31, KLHL7, PRPF6, KIZ, ABHD12, PANK2, RP1L1, PNPLA6, USH1G, WHRN, TRIM32, ZNF423, MFN2, ARHGEF18, ADAMTS18, ARL2BP, DHX38, RIMS1, PRPF8, PRPF3, PRPF4, ADGRV1, CDH3, INVS, NMNAT1, RDH11, MFRP, RAX2, WDR19, IMPG2, RTN4IP1, BBS7, NPHP4, CHM, RD3, KCNV2, KIAA0586, TTLL5, RDH12, ZNF408, TTC8, CACNA2D4, SPATA7, DHDDS, ARMC9, CLN3, PITPNM3, INPP5E, CNGA1, CNGA3, CNGB1, CNGB3, EYS, AHI1, ADAM9, TSPAN12, TOPORS, CERKL, VPS13B, COL11A1, COL18A1, COL9A1, COL9A2, COL9A3, PEX26, GNPTG, CYP4V2, CRB1, CRX, ADIPOR1, B9D1, CISD2, TCTN3, MMACHC, CIB2, VCAN, FLVCR1, LRIT3, CEP104, TMEM216, CTNNA1, CTNNB1, SLC25A46, TMEM126A, ARL13B, TTC21B, OFD1, CEP78, TCTN2, CPLANE1, FAM161A, TCTN1, AGBL5, CTC1, CSPP1, PDZD7, BBS10, ZNF513, HGSNAT, BBS12, TMEM138, C8orf37, WDPCP, BBIP1, TMEM107, TMEM67, MFSD8, B9D2, SAMD11, DRAM2, IQCB1, EMC1, CEP290, IFT140, RPGRIP1L, CEP164, CC2D2A, SLC7A14, BBS9, REEP6, RGS9BP, IFT172, KIF7, POC1B, SNRNP200, GPR179, LCA5, EFEMP1, PRCD, ABCA4, PCARE, AIPL1, TMEM231, DTHD1, FZD4, ALMS1, GNAT1, GNAT2, GNB3, GRM6, GUCA1A, GUCY2D, HARS, HK1, HMX1, IDH3B, IMPDH1, IMPG1, JAG1, KCNJ13, KIF11, LRAT, LRP2, LRP5, LZTFL1, MAK, MERTK, MKKS, MKS1, TRPM1, MTTP, MVK, MYO7A, NDP, NEK2, NPHP1, NPHP3, ATF6, NR2E3, NR2F1, NRL, FRMD7, NYX, OAT, OPA1, OPA3, OTX2, PAX2, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PLA2G5, PRKCG, PROM1, PRPS1, BBS1, BBS2, BBS4, BBS5, PEX19, PEX2, PEX5, RAB28, RBP3, RBP4, RDH5, PRPH2, RGR Specificity 1 % Genes 100 %
Joubert Syndrome Panel. By Blueprint Genetics (Finland). CEP41, CFAP410, TMEM237, ZNF423, KIAA0586, ARMC9, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120 , (...) View the complete list with 16 more genes Panel complete gene list CEP41, CFAP410, TMEM237, ZNF423, KIAA0586, ARMC9, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107, TMEM67, B9D2, CEP290, KIAA0556, KIAA0753, RPGRIP1L, CEP164, CC2D2A, KIF7, TMEM231, MKS1, NPHP1, NPHP3, PDE6D Specificity 3 % Genes 100 %
Ciliopathy Panel. By Blueprint Genetics (Finland). SDCCAG8, CEP41, CFAP410, USP9X, ZIC3, ARL6, NEK8, IFT122, IFT81, TMEM237, PNPLA6, TRIM32, ZNF423, ACVR2B, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, CENPF , (...) View the complete list with 79 more genes Panel complete gene list SDCCAG8, CEP41, CFAP410, USP9X, ZIC3, ARL6, NEK8, IFT122, IFT81, TMEM237, PNPLA6, TRIM32, ZNF423, ACVR2B, TRAF3IP1, INVS, CEP83, DCDC2, WDR19, CENPF, CRB2, BBS7, NPHP4, KIF14, EVC2, KIAA0586, TTC8, ARMC9, INPP5E, AHI1, WDR60, B9D1, TCTN3, C2CD3, DYNC2LI1, CEP104, TMEM216, DDX59, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, BBS10, HYLS1, BBS12, CEP120, ANKS6, TMEM138, C8orf37, WDPCP, BBIP1, TMEM107, TMEM67, CCNQ, DHCR7, B9D2, IQCB1, CEP290, KIAA0556, IFT140, KIAA0753, RPGRIP1L, CEP164, WDR35, CC2D2A, IFT80, GLIS2, MAPKBP1, DYNC2H1, IFT43, BBS9, IFT172, KIF7, POC1B, LEFTY2, EVC, TMEM231, ALMS1, GLI2, GLI3, LZTFL1, MKKS, MKS1, NEK1, NODAL, NPHP1, NPHP3, PDE6D, PKD1, PKD2, PKHD1, PMM2, BBS1, BBS2, BBS4, BBS5 Specificity 2 % Genes 100 %

You can get up to 0 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRANSALDOLASE DEFICIENCY THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA MECKEL SYNDROME, TYPE 2; MKS2 HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4 BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1