CC2D2A gene related symptoms and diseases

All the information presented here about the CC2D2A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CC2D2A gene

Symptoms // Phenotype % Cases
Encephalocele Very Common - Between 80% and 100% cases
Hydrocephalus Very Common - Between 80% and 100% cases
Hepatic fibrosis Common - Between 50% and 80% cases
Postaxial hand polydactyly Common - Between 50% and 80% cases
Renal cyst Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CC2D2A gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Aplasia/Hypoplasia of the corpus callosum
  • Multicystic kidney dysplasia
  • Molar tooth sign on MRI
  • Congenital hepatic fibrosis
  • Cerebellar vermis hypoplasia
  • Retinal dystrophy
  • Coloboma
  • Seizures

And 190 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CC2D2A gene

Here you will find a list of rare diseases related to the CC2D2A. 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 6; MKS6


Most common symptoms of MECKEL SYNDROME, TYPE 6; MKS6

  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Polydactyly
  • Cleft lip


More info about MECKEL SYNDROME, TYPE 6; MKS6

SOURCES: OMIM MESH

JOUBERT SYNDROME 9; JBTS9


Most common symptoms of JOUBERT SYNDROME 9; JBTS9

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


More info about JOUBERT SYNDROME 9; JBTS9

SOURCES: OMIM

GASTROINTESTINAL STROMAL TUMOR


Alternate names

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist

Description

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


More info about GASTROINTESTINAL STROMAL TUMOR

SOURCES: OMIM ORPHANET MESH

JOUBERT SYNDROME WITH HEPATIC DEFECT


Alternate names

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome, cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis, cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis, js-h, joubert syndrome with congenital hepatic fibro

Description

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

Most common symptoms of JOUBERT SYNDROME WITH HEPATIC DEFECT

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

SOURCES: ORPHANET MESH OMIM

JOUBERT SYNDROME WITH OCULORENAL DEFECT


Alternate names

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia, arima syndrome, js-or, js type b, cerebellooculorenal syndrome, joubert syndrome with senior-loken syndrome, cors, joubert syndrome with bilateral chorioretinal coloboma, cerebrooculohepatorenal syndrome, de

Description

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

Most common symptoms of JOUBERT SYNDROME WITH OCULORENAL DEFECT

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

SOURCES: OMIM ORPHANET


Potential gene panels for CC2D2A gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

CC2D2A DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the CC2D2A gene.

More info about this panel

Joubert Syndrome Evaluation Panel

United States.

By Athena Diagnostics Inc Joubert Syndrome Evaluation that also includes the following genes: AHI1 TMEM216 TMEM67 CEP290 CC2D2A NPHP1

More info about this panel

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

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

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

Liver Diseases Deletion/duplication panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2

More info about this panel

Liver Diseases Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1

More info about this panel

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

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

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

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

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

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

Comprehensive Brain Malformations Panel Panel

United States.

By GeneDx Comprehensive Brain Malformations Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 TMEM237 CASK TSEN34 ARFGEF2 NDE1 FKRP

More info about this panel

CC2D2A. Detection of the mutation c.1762C>T (p.Val587fs) by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CC2D2A gene.

More info about this panel

TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, CEP41, TMEM237. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, CEP41, TMEM237. NextGeneDx.Complete sequencing by NGS that also includes the following genes: CEP41 TMEM237 AHI1 TMEM216 ARL13B OFD1 TMEM67 CEP290 RPGRIP1L CC2D2A

More info about this panel

CC2D2A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CC2D2A gene.

More info about this panel

Joubert syndrome type 9 (sequence analysis of CC2D2A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CC2D2A gene.

More info about this panel

Meckel syndrome type 6 (sequence analysis of CC2D2A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CC2D2A gene.

More info about this panel

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

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

Meckel syndrome MKS1 and CC2D2A gene founder mutation analyses Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master Meckel syndrome MKS1 and CC2D2A gene founder mutation analyses that also includes the following genes: CC2D2A MKS1

More info about this panel

Congenital Limb Malformation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15

More info about this panel

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

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

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

Joubert and Meckel-Gruber Syndromes via CC2D2A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CC2D2A gene.

More info about this panel

Nephronophthisis and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Nephronophthisis and related disorders NGS panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4

More info about this panel

Nephronophthisis and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Nephronophthisis and related disorders Comprehensive panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4

More info about this panel

Nephronophthisis and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Nephronophthisis and related disorders Deletion / Duplication panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4

More info about this panel

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

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

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

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

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

Hepatic and pancreatic diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B

More info about this panel

CC2D2A-Related Joubert Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CC2D2A gene.

More info about this panel

CC2D2A-Related Meckel Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the CC2D2A gene.

More info about this panel

Meckel Gruber Syndrome Panel

India.

By GeneTech ATS GeneTech Private Limited Meckel Gruber Syndrome that also includes the following genes: TMEM67 CEP290 CC2D2A MKS1

More info about this panel

COACH syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CC2D2A gene.

More info about this panel

Joubert syndrome type 9 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CC2D2A gene.

More info about this panel

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

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

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

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

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

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

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

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

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

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

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

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

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

Invitae Nephronophthisis Panel Panel

United States.

By Invitae Invitae Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 TMEM237 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 AHI1

More info about this panel

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

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

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

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

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

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

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

Brain Malformations: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Sequencing Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2

More info about this panel

Limb Malformation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5

More info about this panel

Neurology: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3

More info about this panel

Neonatal and Adult Cholestasis: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Brain Malformations: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Brain Malformations: Deletion/Duplication Panel that also includes the following genes: CEP41 TUBA8 VLDLR VRK1 ACTB ACTG1 TMEM237 CASK TSEN34 ARFGEF2

More info about this panel

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

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

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

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

Eye Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

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

Congenital Hepatic Fibrosis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Congenital Hepatic Fibrosis NGS Panel that also includes the following genes: ARL6 NEK8 TRIM32 INVS BBS7 NPHP4 EVC2 TTC8 AHI1 ARL13B

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

CC2D2A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CC2D2A gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

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

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

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

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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

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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

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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

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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

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Meckel syndrome type 6 Panel

Spain.

By Bioarray

This panel specifically test the CC2D2A gene.

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Joubert syndrome type 9 Panel

Spain.

By Bioarray

This panel specifically test the CC2D2A gene.

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MECKEL SYNDROME (MECKEL-GRUBER) Panel

Spain.

By Laboratorio de Genetica Clinica SL MECKEL SYNDROME (MECKEL-GRUBER) that also includes the following genes: TMEM216 TMEM67 CEP290 RPGRIP1L CC2D2A MKS1

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JOUBERT SYNDROME (JBTS) Panel

Spain.

By Laboratorio de Genetica Clinica SL JOUBERT SYNDROME (JBTS) that also includes the following genes: INPP5E AHI1 TCTN3 TMEM216 ARL13B OFD1 CPLANE1 TMEM67 CEP290 RPGRIP1L

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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

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Meckel Syndrome Type 6, Sequencing CC2D2A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CC2D2A gene.

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Joubert Syndrome Type 9, Sequencing CC2D2A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CC2D2A gene.

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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

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Joubert Syndrome , Panel Massive Sequencing (NGS) 13 Genes Panel

Spain.

By Reference Laboratory Genetics Joubert Syndrome , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: CEP41 TMEM237 INPP5E AHI1 TMEM216 ARL13B OFD1 TMEM138 TMEM67 CEP290

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