TCTN2 gene related symptoms and diseases

All the information presented here about the TCTN2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TCTN2 gene

Symptoms // Phenotype % Cases
Encephalocele Very Common - Between 80% and 100% cases
Postaxial hand polydactyly Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Polymicrogyria Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TCTN2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Talipes equinovarus
  • Anophthalmia
  • Aplasia/Hypoplasia of the corpus callosum
  • Situs inversus totalis
  • Depressed nasal ridge
  • Polydactyly
  • Gait disturbance
  • Cleft palate

And 97 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TCTN2 gene

Here you will find a list of rare diseases related to the TCTN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MECKEL SYNDROME

Alternate names

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Description

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

Most common symptoms of MECKEL SYNDROME

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


More info about MECKEL SYNDROME

SOURCES: ORPHANET

MECKEL SYNDROME, TYPE 8; MKS8

Description

Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Most common symptoms of MECKEL SYNDROME, TYPE 8; MKS8

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


More info about MECKEL SYNDROME, TYPE 8; MKS8

SOURCES: OMIM

JOUBERT SYNDROME

Alternate names

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv, joubert syndrome type a, classic joubert syndrome, pure joubert syndrome, cpd iv, joubert-boltshauser syndrome

Description

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

Most common symptoms of JOUBERT SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


More info about JOUBERT SYNDROME

SOURCES: ORPHANET

JOUBERT SYNDROME 24; JBTS24

Description

Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Most common symptoms of JOUBERT SYNDROME 24; JBTS24

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


More info about JOUBERT SYNDROME 24; JBTS24

SOURCES: OMIM


Potential gene panels for TCTN2 gene

Ciliopathies Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1

More info about this panel
United States.

Comprehensive Brain Malformation Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8

More info about this panel
United States.

Joubert Syndrome Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Joubert Syndrome that also includes the following genes: CEP41 TMEM237 INPP5E AHI1 B9D1 TMEM216 ARL13B TTC21B OFD1 TCTN2

More info about this panel
United States.

Joubert/Meckel-Gruber syndrome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Joubert/Meckel-Gruber syndrome Panel that also includes the following genes: CEP41 TMEM237 KIF14 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel
United States.

Meckel Gruber Syndrome Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Meckel Gruber Syndrome Sequencing Panel that also includes the following genes: KIF14 B9D1 TCTN3 TMEM216 TCTN2 CSPP1 TMEM107 TMEM67 B9D2 CEP290

More info about this panel
United States.

Renal Cystic Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6

More info about this panel
United States.

Meckel Gruber Syndrome Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Meckel Gruber Syndrome Deletion/Duplication Panel that also includes the following genes: KIF14 B9D1 TCTN3 TMEM216 TCTN2 CSPP1 TMEM107 TMEM67 B9D2 CEP290

More info about this panel
United States.

Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel that also includes the following genes: CEP41 TMEM237 KIF14 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel
United States.

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

Meckel syndrome 8 (sequence analysis of TCTN2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TCTN2 gene.

More info about this panel
Portugal.

Joubert syndrome (NGS panel for 24 genes) Panel

Portugal.

By CGC Genetics Joubert syndrome (NGS panel for 24 genes) that also includes the following genes: CEP41 TMEM237 ZNF423 INPP5E AHI1 TCTN3 EXOC8 TMEM216 ARL13B TTC21B

More info about this panel
Portugal.

Ciliopathies (NGS panel for 90 genes) Panel

Portugal.

By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8

More info about this panel
Portugal.

Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel
United States.

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Ciliopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237

More info about this panel
United States.

Meckel-Gruber Syndrome / Joubert Syndrome via TCTN2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the TCTN2 gene.

More info about this panel
United States.

Joubert syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Joubert syndrome and related disorders NGS panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel
United States.

Joubert syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Joubert syndrome and related disorders Deletion / Duplication panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel
United States.

Joubert syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Joubert syndrome and related disorders Comprehensive panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1

More info about this panel
United States.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel
Germany.

Meckel syndrome, type 8 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the TCTN2 gene.

More info about this panel
Germany.

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

Joubert Syndrome Panel Panel

Germany.

By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel
Germany.

Joubert Syndrome Panel Panel

Germany.

By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel
Germany.

Joubert Syndrome Panel Panel

Germany.

By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel
Germany.

Meckel Syndrome Panel Panel

Germany.

By CeGaT GmbH Meckel Syndrome Panel that also includes the following genes: B9D1 TMEM216 TCTN2 WDPCP TMEM67 B9D2 CEP290 RPGRIP1L CC2D2A TMEM231

More info about this panel
Germany.

Joubert Syndrome Panel Panel

Germany.

By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel
Germany.

Joubert Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Joubert Syndrome that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel
Estonia.

Brain malformations Panel

Estonia.

By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB

More info about this panel
Estonia.

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
Estonia.

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Joubert Syndrome Panel Panel

United States.

By Molecular Vision Laboratory Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 INPP5E AHI1 B9D1 TCTN3 TMEM216 ARL13B TTC21B OFD1

More info about this panel
United States.

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Invitae Joubert and Meckel-Gruber Syndromes Panel Panel

United States.

By Invitae Invitae Joubert and Meckel-Gruber Syndromes Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216

More info about this panel
United States.

Invitae Ciliopathies Panel Panel

United States.

By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237

More info about this panel
United States.

Meckel syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Meckel syndrome that also includes the following genes: B9D1 TMEM216 TCTN2 TMEM67 B9D2 CEP290 RPGRIP1L CC2D2A MKS1 NPHP3

More info about this panel
Spain.

Joubert syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Joubert syndrome that also includes the following genes: CEP41 TMEM237 AHI1 TMEM216 ARL13B OFD1 TCTN2 CPLANE1 TCTN1 TMEM138

More info about this panel
Spain.

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel
United States.

Joubert Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Joubert Syndrome: Sequencing Panel that also includes the following genes: CEP41 TMEM237 ZNF423 AHI1 TCTN3 TMEM216 ARL13B TTC21B OFD1 TCTN2

More info about this panel
United States.

Ciliopathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41

More info about this panel
United States.

Ciliopathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A

More info about this panel
United States.

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel
United States.

Joubert Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Joubert Syndrome NGS Panel that also includes the following genes: CEP41 TMEM237 AHI1 B9D1 TMEM216 ARL13B TTC21B OFD1 TCTN2 TCTN1

More info about this panel
United States.

Ciliopathies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL

More info about this panel
United States.

Joubert and Meckel NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Joubert and Meckel NGS Panel that also includes the following genes: CEP41 TMEM237 PMPCA AHI1 B9D1 TMEM216 ARL13B OFD1 TCTN2 TMEM138

More info about this panel
United States.

TCTN2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TCTN2 gene.

More info about this panel
United States.

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel
United States.

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel
Finland.

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel
Finland.

Joubert Syndrome Panel Panel

Finland.

By Blueprint Genetics Joubert Syndrome Panel that also includes the following genes: CEP41 CFAP410 TMEM237 ZNF423 KIAA0586 ARMC9 INPP5E AHI1 B9D1 TCTN3

More info about this panel
Finland.

Ciliopathy Panel Panel

Finland.

By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237

More info about this panel
Finland.

Congenital Hepatic Fibrosis Panel Panel

Finland.

By Blueprint Genetics Congenital Hepatic Fibrosis Panel that also includes the following genes: CEP41 ARL6 NEK8 TMEM237 TRIM32 ZNF423 INVS DCDC2 WDR19 BBS7

More info about this panel
Finland.

Meckel Syndrome Panel Panel

Finland.

By Blueprint Genetics Meckel Syndrome Panel that also includes the following genes: KIF14 B9D1 TMEM216 TCTN2 TMEM107 TMEM67 B9D2 CEP290 RPGRIP1L CC2D2A

More info about this panel
Finland.

SÍNDROME DE MECKEL/ MECKEL-GRUBER/ MECKEL-GRUBER-LIKE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SÍNDROME DE MECKEL/ MECKEL-GRUBER/ MECKEL-GRUBER-LIKE NGS PANEL that also includes the following genes: TMEM237 KIAA0586 TXNDC15 AHI1 B9D1 TMEM216 TTC21B TCTN2 TCTN1 CSPP1

More info about this panel
Spain.

Meckel Syndrome , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Meckel Syndrome , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: B9D1 TMEM216 TCTN2 TMEM67 B9D2 CEP290 RPGRIP1L CC2D2A MKS1 NPHP3

More info about this panel
Spain.

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