Coach Syndrome

Description

COACH syndrome is an autosomal recessive disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; see {213300}) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding (Brancati et al., 2009; Doherty et al., 2010).

Clinical Features

Top most frequent phenotypes and symptoms related to Coach Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Scoliosis
  • Hypertelorism
  • Ataxia
  • Growth delay
  • Nystagmus
And another 81 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Coach Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
75 %
Bardet-Biedl Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

INPP5E, TMEM67, KCNJ13, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, C8orf37, CCDC28B, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
50 %
Joubert Syndrome.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1 , (...)

View the complete list with 2 more genes
Specificity
19 %
Genes
100 %
Joubert/Meckel-Gruber syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7 , (...)

View the complete list with 13 more genes
Specificity
13 %
Genes
100 %
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

VHL, INVS, HNF1B, INPP5E, CC2D2A, JAG1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, XPNPEP3, IQCB1, BBS7, BBS5, BBS12 , (...)

View the complete list with 55 more genes
Specificity
6 %
Genes
100 %
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7 , (...)

View the complete list with 13 more genes
Specificity
13 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Comprehensive Brain Malformations Panel.

By GeneDx in United States.

TUBB3, INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 24 more genes
Specificity
10 %
Genes
100 %
INPP5E. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

INPP5E
Specificity
100 %
Genes
25 %
Joubert Syndrome (sequence analysis of INPP5E gene).

By CGC Genetics in Portugal.

INPP5E
Specificity
100 %
Genes
25 %
Joubert syndrome (NGS panel for 24 genes).

By CGC Genetics in Portugal.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TMEM231, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, TCTN3 , (...)

View the complete list with 4 more genes
Specificity
17 %
Genes
100 %
Ciliopathies (NGS panel for 90 genes).

By CGC Genetics in Portugal.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, CCDC39, CCDC28B, XPNPEP3, IQCB1, BBS7, BBS5, BBS12, MKS1 , (...)

View the complete list with 70 more genes
Specificity
5 %
Genes
100 %
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, TULP1, SAG, RPGRIP1, RPE65, RLBP1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
25 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1, SPATA7, INPP5E, OTX2, CNGB3, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, GNAT2, LRAT, RDH12, RD3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
25 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
25 %
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
100 %
Joubert Syndrome via the INPP5E Gene.

By PreventionGenetics PreventionGenetics in United States.

INPP5E
Specificity
100 %
Genes
25 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
2 %
Genes
100 %
Ciliopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9 , (...)

View the complete list with 73 more genes
Specificity
5 %
Genes
100 %
Leber congenital amaurosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
Leber congenital amaurosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
Leber congenital amaurosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
25 %
Joubert syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, SUFU, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...)

View the complete list with 17 more genes
Specificity
11 %
Genes
100 %
Joubert syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, SUFU, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...)

View the complete list with 17 more genes
Specificity
11 %
Genes
100 %
Joubert syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, SUFU, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...)

View the complete list with 17 more genes
Specificity
11 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
INPP5E-Related Joubert Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

INPP5E
Specificity
100 %
Genes
25 %
Joubert syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

INPP5E
Specificity
100 %
Genes
25 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Joubert Syndrome Panel.

By CeGaT GmbH in Germany.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
100 %
Joubert Syndrome Panel.

By CeGaT GmbH in Germany.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
100 %
Joubert Syndrome Panel.

By CeGaT GmbH in Germany.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
2 %
Genes
100 %
Joubert Syndrome Panel.

By CeGaT GmbH in Germany.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1 , (...)

View the complete list with 8 more genes
Specificity
15 %
Genes
100 %
Joubert Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41 , (...)

View the complete list with 9 more genes
Specificity
14 %
Genes
100 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
3 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
2 %
Genes
100 %
Bardet-Biedl syndrome panel.

By Molecular Vision Laboratory in United States.

INPP5E, KCNJ13, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, C8orf37, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, LZTFL1, IFT27 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
25 %
Joubert Syndrome Panel.

By Molecular Vision Laboratory in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41 , (...)

View the complete list with 5 more genes
Specificity
16 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
2 %
Genes
100 %
MORM syndrome.

By Praxis fuer Humangenetik Wien in Austria.

INPP5E
Specificity
100 %
Genes
25 %
Joubert syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

INPP5E
Specificity
100 %
Genes
25 %
Joubert syndrome 1.

By MedGene in Slovakia.

INPP5E
Specificity
100 %
Genes
25 %
MORM syndrome.

By MedGene in Slovakia.

INPP5E
Specificity
100 %
Genes
25 %
Invitae Joubert and Meckel-Gruber Syndromes Panel.

By Invitae in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, MRE11, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...)

View the complete list with 10 more genes
Specificity
14 %
Genes
100 %
Invitae Ciliopathies Panel.

By Invitae in United States.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, XPNPEP3, IQCB1, BBS7, BBS5, BBS12, MKS1 , (...)

View the complete list with 82 more genes
Specificity
4 %
Genes
100 %
INPP5E.

By Fulgent Genetics Fulgent Genetics in United States.

INPP5E
Specificity
100 %
Genes
25 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
2 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
2 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
3 %
Genes
100 %
Joubert Syndrome Panel.

By Blueprint Genetics in Finland.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, CFAP410, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...)

View the complete list with 16 more genes
Specificity
12 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
25 %
Ciliopathy Panel.

By Blueprint Genetics in Finland.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, C8orf37, IQCB1, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9 , (...)

View the complete list with 79 more genes
Specificity
5 %
Genes
100 %
Congenital Hepatic Fibrosis Panel.

By Blueprint Genetics in Finland.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4 , (...)

View the complete list with 32 more genes
Specificity
8 %
Genes
100 %
Joubert syndrome Type 1.

By Bioarray in Spain.

INPP5E
Specificity
100 %
Genes
25 %
JOUBERT SYNDROME (JBTS).

By Laboratorio de Genetica Clinica SL in Spain.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, RPGRIP1L, CPLANE1, ARL13B
Specificity
37 %
Genes
100 %
Joubert Syndrome Type 1, Sequencing INPP5E Gene.

By Reference Laboratory Genetics in Spain.

INPP5E
Specificity
100 %
Genes
25 %
Joubert Syndrome , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

INPP5E, CC2D2A, TMEM67, CEP290, TMEM216, AHI1, OFD1, TMEM237, TMEM138, RPGRIP1L, KIF7, CEP41, ARL13B
Specificity
31 %
Genes
100 %
Ciliopathies.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

VHL, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1 , (...)

View the complete list with 73 more genes
Specificity
4 %
Genes
75 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)

View the complete list with 86 more genes
Specificity
3 %
Genes
75 %
Meckel Gruber Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CC2D2A, TMEM67, NPHP3, CEP290, MKS1, TMEM216, TMEM231, B9D1, TCTN2, RPGRIP1L, B9D2, TCTN3, TMEM107, KIF14, CSPP1
Specificity
20 %
Genes
75 %
Nephronophthisis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

INVS, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, DCDC2, WDR19, SDCCAG8, TTC21B, RPGRIP1L, NEK8, GLIS2, IFT172, CEP164, ZNF423, CEP83, ANKS6
Specificity
10 %
Genes
50 %
Nephronophthisis Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

INVS, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, DCDC2, WDR19, SDCCAG8, TTC21B, RPGRIP1L, NEK8, GLIS2, IFT172, CEP164, ZNF423, CEP83, ANKS6
Specificity
10 %
Genes
50 %
Meckel Gruber Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

CC2D2A, TMEM67, NPHP3, CEP290, MKS1, TMEM216, TMEM231, B9D1, TCTN2, RPGRIP1L, B9D2, TCTN3, TMEM107, KIF14, CSPP1
Specificity
20 %
Genes
75 %
Autism/Intellectual Disability/Multiple Anomalies.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

FMR1, UBE3A, PTEN, HPRT1, NHS, MKKS, RAF1, MECP2, TUBA1A, SLC9A6, FGFR3, ARX, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, HRAS , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
25 %
RPGRIP1L. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RPGRIP1L
Specificity
100 %
Genes
25 %
NPHP1, NPHP4, CEP290, RPGRIP1L, GLIS2. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

NPHP1, CEP290, NPHP4, RPGRIP1L, GLIS2
Specificity
20 %
Genes
25 %
TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, CEP41, TMEM237. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TMEM237, RPGRIP1L, CEP41, ARL13B
Specificity
28 %
Genes
75 %
RPGRIP1L. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RPGRIP1L
Specificity
100 %
Genes
25 %
Meckel syndrome 5 (sequence analysis of RPGRIP1L gene).

By CGC Genetics in Portugal.

RPGRIP1L
Specificity
100 %
Genes
25 %
Nephronophthisis (NGS panel for 19 genes).

By CGC Genetics in Portugal.

INVS, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, DCDC2, WDR19, SDCCAG8, TTC21B, RPGRIP1L, NEK8, GLIS2, CEP164, ZNF423, CEP83, ANKS6
Specificity
11 %
Genes
50 %
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

INVS, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, DCDC2, WDR19, SDCCAG8, TTC21B, RPGRIP1L, NEK8, GLIS2, CEP164, ZNF423, CEP83, ANKS6
Specificity
12 %
Genes
50 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...)

View the complete list with 49 more genes
Specificity
3 %
Genes
50 %
Joubert and Meckel-Gruber Syndromes via the RPGRIP1L Gene.

By PreventionGenetics PreventionGenetics in United States.

RPGRIP1L
Specificity
100 %
Genes
25 %
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

VHL, INVS, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1, OFD1 , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
50 %
Nephronophthisis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

INVS, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, PKHD1, TMEM216, AHI1, OFD1, DCDC2, WDR19, SDCCAG8, TTC21B, TMEM138, RPGRIP1L, NEK8 , (...)

View the complete list with 9 more genes
Specificity
11 %
Genes
75 %
Nephronophthisis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

INVS, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, PKHD1, TMEM216, AHI1, OFD1, DCDC2, WDR19, SDCCAG8, TTC21B, TMEM138, RPGRIP1L, NEK8 , (...)

View the complete list with 9 more genes
Specificity
11 %
Genes
75 %
Nephronophthisis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

INVS, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, PKHD1, TMEM216, AHI1, OFD1, DCDC2, WDR19, SDCCAG8, TTC21B, TMEM138, RPGRIP1L, NEK8 , (...)

View the complete list with 9 more genes
Specificity
11 %
Genes
75 %
RPGRIP1L-Related Joubert Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

RPGRIP1L
Specificity
100 %
Genes
25 %
RPGRIP1L-Related Meckel Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

RPGRIP1L
Specificity
100 %
Genes
25 %
Nephronophthisis panel.

By Centogene AG - the Rare Disease Company in Germany.

INVS, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, SDCCAG8, RPGRIP1L, NEK8, GLIS2, CEP164, ZNF423, ANKS6
Specificity
8 %
Genes
25 %
COACH syndrome.

By Centogene AG - the Rare Disease Company in Germany.

RPGRIP1L
Specificity
100 %
Genes
25 %
Joubert syndrome type 7.

By Centogene AG - the Rare Disease Company in Germany.

RPGRIP1L
Specificity
100 %
Genes
25 %
Meckel Syndrome Panel.

By CeGaT GmbH in Germany.

CC2D2A, TMEM67, NPHP3, CEP290, MKS1, TMEM216, TMEM231, WDPCP, B9D1, TCTN2, RPGRIP1L, B9D2
Specificity
25 %
Genes
75 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
2 %
Genes
75 %
Invitae Nephronophthisis Panel.

By Invitae in United States.

INVS, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, PKHD1, TMEM216, AHI1, OFD1, DCDC2, WDR19, SDCCAG8, TTC21B, TMEM237, TCTN1, RPGRIP1L , (...)

View the complete list with 7 more genes
Specificity
12 %
Genes
75 %
Nephronophthisis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

INVS, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, AHI1, SDCCAG8, RPGRIP1L, NEK8, GLIS2, ANKS6
Specificity
9 %
Genes
25 %
Meckel syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CC2D2A, TMEM67, NPHP3, CEP290, MKS1, TMEM216, B9D1, TCTN2, RPGRIP1L, B9D2
Specificity
30 %
Genes
75 %
Joubert syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B
Specificity
19 %
Genes
75 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
2 %
Genes
75 %
Joubert Syndrome: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TTC21B, TMEM237, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, TCTN3, ZNF423
Specificity
17 %
Genes
75 %
Ciliopathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 92 more genes
Specificity
3 %
Genes
75 %
Brain Malformations: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 30 more genes
Specificity
6 %
Genes
75 %
Limb Malformation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, CC2D2A, CEP290, SHH, MKS1, FGFR3, FGFR2, NIPBL, PIGV, SALL1, CHSY1, SOX9, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5 , (...)

View the complete list with 26 more genes
Specificity
5 %
Genes
50 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
2 %
Genes
75 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
2 %
Genes
75 %
Brain Malformations: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 30 more genes
Specificity
6 %
Genes
75 %
Ciliopathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 76 more genes
Specificity
4 %
Genes
75 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
2 %
Genes
75 %
Joubert Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CC2D2A, TMEM67, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, ARL13B
Specificity
17 %
Genes
75 %
Ciliopathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 75 more genes
Specificity
4 %
Genes
75 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
2 %
Genes
50 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
75 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
75 %
Joubert and Meckel NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, B9D1, TMEM237, TMEM138, TCTN2, RPGRIP1L, KIF7, CEP41, ARL13B, B9D2, PMPCA
Specificity
16 %
Genes
75 %
Nephronophthisis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

INVS, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, SDCCAG8, RPGRIP1L, NEK8, GLIS2
Specificity
10 %
Genes
25 %
Retinitis Pigmentosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
25 %
Congenital Hepatic Fibrosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

INVS, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1 , (...)

View the complete list with 14 more genes
Specificity
9 %
Genes
75 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
2 %
Genes
75 %
RPGRIP1L.

By Fulgent Genetics Fulgent Genetics in United States.

RPGRIP1L
Specificity
100 %
Genes
25 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
75 %
Nephronophthisis Panel.

By Blueprint Genetics in Finland.

INVS, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, DCDC2, WDR19, SDCCAG8, TTC21B, RPGRIP1L, NEK8, GLIS2, IFT172, CEP164, ZNF423, CEP83, ANKS6, MAPKBP1
Specificity
10 %
Genes
50 %
Cystic Kidney Disease Panel.

By Blueprint Genetics in Finland.

VHL, INVS, EYA1, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1 , (...)

View the complete list with 20 more genes
Specificity
5 %
Genes
50 %
Meckel Syndrome Panel.

By Blueprint Genetics in Finland.

CC2D2A, TMEM67, NPHP3, CEP290, MKS1, TMEM216, TMEM231, B9D1, TCTN2, RPGRIP1L, B9D2, TMEM107, KIF14
Specificity
24 %
Genes
75 %
Meckel syndrome type 5.

By Bioarray in Spain.

RPGRIP1L
Specificity
100 %
Genes
25 %
Joubert syndrome type 7.

By Bioarray in Spain.

RPGRIP1L
Specificity
100 %
Genes
25 %
Cystic Disease and Nephronopthisis Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

INVS, EYA1, HNF1B, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, PAX2, PKHD1, AHI1, UMOD, PKD2, PKD1, SIX5, TTC21B, RPGRIP1L, NEK8 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
50 %
MECKEL SYNDROME (MECKEL-GRUBER).

By Laboratorio de Genetica Clinica SL in Spain.

CC2D2A, TMEM67, CEP290, MKS1, TMEM216, RPGRIP1L
Specificity
50 %
Genes
75 %
Meckel Syndrome Type 5, Sequencing RPGRIP1L Gene.

By Reference Laboratory Genetics in Spain.

RPGRIP1L
Specificity
100 %
Genes
25 %
Joubert Syndrome Type 7, Sequencing RPGRIP1L Gene.

By Reference Laboratory Genetics in Spain.

RPGRIP1L
Specificity
100 %
Genes
25 %
Meckel Syndrome , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

CC2D2A, TMEM67, NPHP3, CEP290, MKS1, TMEM216, B9D1, TCTN2, RPGRIP1L, B9D2
Specificity
30 %
Genes
75 %
Nephronophthisis , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

INVS, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, AHI1, SDCCAG8, RPGRIP1L, NEK8, GLIS2
Specificity
10 %
Genes
25 %
Joubert Syndrome Evaluation.

By Athena Diagnostics Inc in United States.

CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1
Specificity
34 %
Genes
50 %
TMEM67 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

TMEM67
Specificity
100 %
Genes
25 %
TMEM67. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TMEM67
Specificity
100 %
Genes
25 %
TMEM67. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TMEM67
Specificity
100 %
Genes
25 %
Joubert syndrome (sequence analysis of TMEM67/MKS3 gene).

By CGC Genetics in Portugal.

TMEM67
Specificity
100 %
Genes
25 %
Meckel syndrome type 3 (sequence analysis of TMEM67 gene).

By CGC Genetics in Portugal.

TMEM67
Specificity
100 %
Genes
25 %
Bardet-Biedl syndrome (NGS panel for 22 genes).

By CGC Genetics in Portugal.

TMEM67, ARL6, MKKS, CEP290, TTC8, TRIM32, CCDC28B, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LZTFL1, IFT27, BBIP1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
COACH syndrome (sequence analysis of TMEM67 gene).

By CGC Genetics in Portugal.

TMEM67
Specificity
100 %
Genes
25 %
Bardet-Biedl Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, C8orf37, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, LZTFL1, IFT27, BBIP1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
25 %
Joubert Syndrome, Meckel-Gruber Syndrome, and Nephronophthisis via the TMEM67 Gene.

By PreventionGenetics PreventionGenetics in United States.

TMEM67
Specificity
100 %
Genes
25 %
TMEM67-Related Joubert Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

TMEM67
Specificity
100 %
Genes
25 %
TMEM67-Related Meckel Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

TMEM67
Specificity
100 %
Genes
25 %
Meckel Gruber Syndrome.

By GeneTech ATS GeneTech Private Limited in India.

CC2D2A, TMEM67, CEP290, MKS1
Specificity
50 %
Genes
50 %
COACH syndrome.

By Centogene AG - the Rare Disease Company in Germany.

TMEM67
Specificity
100 %
Genes
25 %
Joubert syndrome type 6.

By Centogene AG - the Rare Disease Company in Germany.

TMEM67
Specificity
100 %
Genes
25 %
Meckel syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

TMEM67
Specificity
100 %
Genes
25 %
Nephronophthisis Panel.

By CeGaT GmbH in Germany.

INVS, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, DCDC2, WDR19, TTC21B, NEK8, GLIS2, CEP164, ZNF423, CEP83, ANKS6, FAN1, SLC41A1
Specificity
6 %
Genes
25 %
Bardet Biedl Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

TMEM67, ARL6, MKKS, CEP290, TTC8, TRIM32, CCDC28B, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, PHF6, LZTFL1, WDPCP , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
25 %
TMEM67.

By Division Human Genetics Medical University Innsbruck in Austria.

TMEM67
Specificity
100 %
Genes
25 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
25 %
TMEM67.

By Fulgent Genetics Fulgent Genetics in United States.

TMEM67
Specificity
100 %
Genes
25 %
Bardet-Biedl Syndrome Panel.

By Blueprint Genetics in Finland.

TMEM67, ARL6, MKKS, CEP290, TTC8, TRIM32, C8orf37, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, PNPLA6, LZTFL1, BBIP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
25 %
Meckel syndrome type 3.

By Bioarray in Spain.

TMEM67
Specificity
100 %
Genes
25 %
Joubert syndrome type 6.

By Bioarray in Spain.

TMEM67
Specificity
100 %
Genes
25 %
BARDET-BIEDL SYNDROME (NGS).

By Laboratorio de Genetica Clinica SL in Spain.

TMEM67, ARL6, MKKS, CEP290, TTC8, TRIM32, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8
Specificity
5 %
Genes
25 %
Meckel Syndrome Type 3, Sequencing TMEM67 Gene.

By Reference Laboratory Genetics in Spain.

TMEM67
Specificity
100 %
Genes
25 %
CC2D2A DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

CC2D2A
Specificity
100 %
Genes
25 %
CC2D2A. Detection of the mutation c.1762C>T (p.Val587fs) by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CC2D2A
Specificity
100 %
Genes
25 %
CC2D2A. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CC2D2A
Specificity
100 %
Genes
25 %
Joubert syndrome type 9 (sequence analysis of CC2D2A gene).

By CGC Genetics in Portugal.

CC2D2A
Specificity
100 %
Genes
25 %
Meckel syndrome type 6 (sequence analysis of CC2D2A gene).

By CGC Genetics in Portugal.

CC2D2A
Specificity
100 %
Genes
25 %
Meckel syndrome MKS1 and CC2D2A gene founder mutation analyses.

By Laboratory of Genetics HUSLAB in Finland.

CC2D2A, MKS1
Specificity
50 %
Genes
25 %
Joubert and Meckel-Gruber Syndromes via the CC2D2A Gene.

By PreventionGenetics PreventionGenetics in United States.

CC2D2A
Specificity
100 %
Genes
25 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
25 %
CC2D2A-Related Joubert Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

CC2D2A
Specificity
100 %
Genes
25 %
CC2D2A-Related Meckel Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

CC2D2A
Specificity
100 %
Genes
25 %
COACH syndrome.

By Centogene AG - the Rare Disease Company in Germany.

CC2D2A
Specificity
100 %
Genes
25 %
Joubert syndrome type 9.

By Centogene AG - the Rare Disease Company in Germany.

CC2D2A
Specificity
100 %
Genes
25 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCB11, ABCB4, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, SLC25A13, SMPD1, DGUOK, FAH, MPV17, CYP27A1, MKS1, CFTR , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
25 %
CC2D2A.

By Fulgent Genetics Fulgent Genetics in United States.

CC2D2A
Specificity
100 %
Genes
25 %
Meckel syndrome type 6.

By Bioarray in Spain.

CC2D2A
Specificity
100 %
Genes
25 %
Joubert syndrome type 9.

By Bioarray in Spain.

CC2D2A
Specificity
100 %
Genes
25 %
Meckel Syndrome Type 6, Sequencing CC2D2A Gene.

By Reference Laboratory Genetics in Spain.

CC2D2A
Specificity
100 %
Genes
25 %
Joubert Syndrome Type 9, Sequencing CC2D2A Gene.

By Reference Laboratory Genetics in Spain.

CC2D2A
Specificity
100 %
Genes
25 %

Alternate names

Coach Syndrome Is also known as cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis, joubert syndrome with congenital hepatic fibrosis;coach syndrome; cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; gentile syndrome; js-h; joubert syndrome with congenital hepatic fibrosis.



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