MKS1 gene related symptoms and diseases
All the information presented here about the MKS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MKS1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Common - Between 50% and 80% cases |
Hydrocephalus | Common - Between 50% and 80% cases |
Nystagmus | Common - Between 50% and 80% cases |
Encephalocele | Common - Between 50% and 80% cases |
Global developmental delay | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with MKS1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cryptorchidism
- Oculomotor apraxia
- Multicystic kidney dysplasia
- Cleft palate
- Foot polydactyly
- Prominent nasal bridge
- Postaxial hand polydactyly
- Iris coloboma
And 155 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MKS1 gene
Here you will find a list of rare diseases related to the MKS1. 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 1; MKS1
Alternate names
MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks, meckel-gruber syndrome, type 1, meckel syndrome, gruber syndrome, dysencephalia splanchnocystica, mes, meckel-gruber syndrome
Description
Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver.
Most common symptoms of MECKEL SYNDROME, TYPE 1; MKS1
- Microcephaly
- Hypertelorism
- Micrognathia
- Cleft palate
- Cryptorchidism
More info about MECKEL SYNDROME, TYPE 1; MKS1
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
BARDET-BIEDL SYNDROME
Alternate names
BARDET-BIEDL SYNDROME Is also known as bbs
Description
Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.
Most common symptoms of BARDET-BIEDL SYNDROME
- Intellectual disability
- Short stature
- Hearing impairment
- Nystagmus
- Cryptorchidism
More info about BARDET-BIEDL SYNDROME
SOURCES: ORPHANET
BARDET-BIEDL SYNDROME 13; BBS13
Description
BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).
Most common symptoms of BARDET-BIEDL SYNDROME 13; BBS13
- Intellectual disability
- Global developmental delay
- Obesity
- Rod-cone dystrophy
- Polydactyly
More info about BARDET-BIEDL SYNDROME 13; BBS13
JOUBERT SYNDROME 28; JBTS28
Most common symptoms of JOUBERT SYNDROME 28; JBTS28
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Nystagmus
More info about JOUBERT SYNDROME 28; JBTS28
SOURCES: OMIM
JOUBERT SYNDROME WITH OCULAR DEFECT
Alternate names
JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy, js-o
Description
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.
Most common symptoms of JOUBERT SYNDROME WITH OCULAR DEFECT
- Intellectual disability
- Seizures
- Global developmental delay
- Scoliosis
- Ataxia
More info about JOUBERT SYNDROME WITH OCULAR DEFECT
SOURCES: ORPHANET
Search interest in MKS1
Potential gene panels for MKS1 gene
MitoMet®Plus aCGH Analysis Panel
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 panelBardet-Biedl Syndrome Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 INPP5E ADIPOR1 BBS10 BBS12
More info about this panelCiliopathies Panel
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 panelComprehensive Brain Malformation Panel Panel
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 panelJoubert Syndrome Panel
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 panelLiver Diseases Deletion/duplication panel Panel
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 panelLiver Diseases Panel by next-generation sequencing (NGS) Panel
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 panelBardet-Biedl Syndrome Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Bardet-Biedl Syndrome Sequencing Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 IFT74 BBS10 BBS12 WDPCP CEP290
More info about this panelMonogenic Obesity Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Monogenic Obesity Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8
More info about this panelJoubert/Meckel-Gruber syndrome Panel Panel
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 panelMeckel Gruber Syndrome Sequencing Panel Panel
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 panelAbnormal/Ambiguous Genitalia Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panelRenal Cystic Disorders Sequencing Panel Panel
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 panelBardet-Biedl Syndrome Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Bardet-Biedl Syndrome Deletion/Duplication Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 IFT74 BBS10 BBS12 WDPCP CEP290
More info about this panelMeckel Gruber Syndrome Deletion/Duplication Panel Panel
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 panelJoubert/Meckel Gruber Syndrome Deletion/Duplication Panel Panel
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 panelMonogenic Obesity Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Monogenic Obesity Deletion/Duplication Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8
More info about this panelAtaxia Exome Panel Panel
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 panelComprehensive Brain Malformations Panel Panel
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 panelMKS1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MKS1 gene.
More info about this panelMKS1. Detection of the mutation c.1487-7_-35del (p.Gly470fs) by sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MKS1 gene.
More info about this panelMeckel Syndrome (sequence analysis of MKS1 gene) Panel
By CGC Genetics
This panel specifically test the MKS1 gene.
More info about this panelBardet-Biedl syndrome (NGS panel for 22 genes) Panel
By CGC Genetics Bardet-Biedl syndrome (NGS panel for 22 genes) that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1
More info about this panelCiliopathies (NGS panel for 90 genes) Panel
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 panelMeckel syndrome MKS1 and CC2D2A gene founder mutation analyses Panel
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 panelBardet-Biedl syndrome 13 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the MKS1 gene.
More info about this panelBardet-Biedl syndrome Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Bardet-Biedl syndrome that also includes the following genes: ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9 MKKS
More info about this panelTest for MKS1-Related Meckel Syndrome Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the MKS1 gene.
More info about this panelCongenital Limb Malformation Sequencing Panel with CNV Detection Panel
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 panelBardet-Biedl Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Bardet-Biedl Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 IFT74 BBS10 BBS12 C8orf37
More info about this panelJoubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel
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 panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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 panelCiliopathy Sequencing Panel with CNV Detection Panel
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 panelMeckel-Gruber Syndrome via MKS1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MKS1 gene.
More info about this panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panelDisorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panelAmbiguous Genitalia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panelComprehensive Monogenic Obesity Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Monogenic Obesity Panel with CNV Detection that also includes the following genes: BDNF SDCCAG8 SIM1 TUB UCP3 KDM6A ARL6 RAB23 TRIM32 PHF6
More info about this panelJoubert syndrome and related disorders NGS panel Panel
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 panelJoubert syndrome and related disorders Deletion / Duplication panel Panel
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 panelJoubert syndrome and related disorders Comprehensive panel Panel
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 panelMental retardation - different panels Panel
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 panelHereditary kidney disorders - different panels Panel
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 panelHepatic and pancreatic diseases - panels Panel
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 panelMKS1-Related Bardet-Biedl Syndrome Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the MKS1 gene.
More info about this panelMKS1-Related Meckel Syndrome Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the MKS1 gene.
More info about this panelMeckel Gruber Syndrome Panel
By GeneTech ATS GeneTech Private Limited Meckel Gruber Syndrome that also includes the following genes: TMEM67 CEP290 CC2D2A MKS1
More info about this panelBardet-Biedl syndrome type 13 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MKS1 gene.
More info about this panelBardet Biedl panel Panel
By Centogene AG - the Rare Disease Company Bardet Biedl panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CCDC28B CEP290
More info about this panelAllNeuro panel Panel
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 panelMeckel syndrome type 1 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MKS1 gene.
More info about this panelBardet Biedl Syndrome Panel Panel
By CeGaT GmbH Bardet Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP
More info about this panelBardet Biedl Syndrome Panel Panel
By CeGaT GmbH Bardet Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP
More info about this panelMeckel Syndrome Panel Panel
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 panelBardet-Biedl Syndrome Panel Panel
By CeGaT GmbH Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP
More info about this panelMKS1 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the MKS1 gene.
More info about this panelBardet Biedl Syndrome Panel
By Asper Biogene Asper Biogene LLC Bardet Biedl Syndrome that also includes the following genes: SDCCAG8 ARL6 TRIM32 PHF6 BBS7 TTC8 BBS10 BBS12 WDPCP CCDC28B
More info about this panelJoubert Syndrome Panel
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 panelBrain malformations Panel
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 panelEye diseases comprehensive panel Panel
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 panelRetinal Dystrophy Panel Panel
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 panelBardet-Biedl syndrome panel Panel
By Molecular Vision Laboratory Bardet-Biedl syndrome panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 INPP5E BBS10 BBS12 C8orf37
More info about this panelJoubert Syndrome Panel Panel
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 panelBBS13/MKS1 Panel
By Molecular Vision Laboratory
This panel specifically test the MKS1 gene.
More info about this panelMVL Vision Panel Panel
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 panelBardet-Biedl syndrome 13 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the MKS1 gene.
More info about this panelMeckel syndrome 1 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the MKS1 gene.
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelBardet-Biedl syndrome 13 Panel
By MedGene
This panel specifically test the MKS1 gene.
More info about this panelMeckel syndrome 1 Panel
By MedGene
This panel specifically test the MKS1 gene.
More info about this panelInvitae Congenital Heart Defects and Heterotaxy Panel Panel
By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298
More info about this panelInvitae Bardet-Biedl Syndrome Panel Panel
By Invitae Invitae Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9
More info about this panelInvitae Joubert and Meckel-Gruber Syndromes Panel Panel
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 panelInvitae Ciliopathies Panel Panel
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 panelBardet-Biedl syndrome Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Bardet-Biedl syndrome that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1 CEP290
More info about this panelMeckel syndrome Panel
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 panelBardet-Biedl Syndrome: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bardet-Biedl Syndrome: Sequencing Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9
More info about this panelEye Disorders: Comprehensive Sequencing Panel Panel
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 panelCiliopathies: Sequencing Panel Panel
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 panelBrain Malformations: Sequencing Panel Panel
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 panelLimb Malformation: Sequencing Panel Panel
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 panelNeurology: Sequencing Panel Panel
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 panelNeonatal and Adult Cholestasis: Sequencing Panel Panel
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 panelSkeletal Dysplasia: Sequencing Panel Panel
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 panelCongenital Obesity: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Obesity: Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 ARL6 TRIM32 PHF6 BBS7 TTC8 VPS13B BBS10 BBS12
More info about this panelBardet-Biedl Syndrome: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Bardet-Biedl Syndrome: Deletion/Duplication Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9
More info about this panelBrain Malformations: Deletion/Duplication Panel Panel
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 panelCiliopathies: Deletion/Duplication Panel Panel
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 panelEye Disorders: Deletion/Duplication Panel Panel
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 panelJoubert Syndrome NGS Panel Panel
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 panelCiliopathies NGS Panel Panel
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 panelBardet-Biedl Syndrome NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Bardet-Biedl Syndrome NGS Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP CEP290 BBS9
More info about this panelDiabetes-Obesity NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL
More info about this panelJoubert and Meckel NGS Panel Panel
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 panelCongenital Hepatic Fibrosis NGS Panel Panel
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 panelSkeletal Dysplasias NGS panel Panel
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 panelMKS1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MKS1 gene.
More info about this panelKidneySeq - 264 Genes Panel
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 panelMonogenic Obesity Panel Panel
By Blueprint Genetics Monogenic Obesity Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 PHF6 KSR2 BBS7 TTC8 VPS13B
More info about this panelRetinal Dystrophy Panel Panel
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 panelAtaxia Panel Panel
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 panelCholestasis Panel Panel
By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2
More info about this panelJoubert Syndrome Panel Panel
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 panelCiliopathy Panel Panel
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 panelCongenital Hepatic Fibrosis Panel Panel
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 panelAbnormal Genitalia/ Disorders of Sex Development Panel Panel
By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4
More info about this panelBardet-Biedl Syndrome Panel Panel
By Blueprint Genetics Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 PNPLA6 TRIM32 BBS7 TTC8 BBS10 BBS12 C8orf37 WDPCP
More info about this panelMeckel Syndrome Panel Panel
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 panelMeckel syndrome type 1 Panel
By Bioarray
This panel specifically test the MKS1 gene.
More info about this panelBARDET-BIEDL SYNDROME Panel
By Laboratorio de Genetica Clinica SL BARDET-BIEDL SYNDROME that also includes the following genes: ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 CEP290 BBS9 MKKS MKS1
More info about this panelMECKEL SYNDROME (MECKEL-GRUBER) Panel
By Laboratorio de Genetica Clinica SL MECKEL SYNDROME (MECKEL-GRUBER) that also includes the following genes: TMEM216 TMEM67 CEP290 RPGRIP1L CC2D2A MKS1
More info about this panelBARDET-BIEDL SYNDROME (NGS) Panel
By Laboratorio de Genetica Clinica SL BARDET-BIEDL SYNDROME (NGS) that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1
More info about this panelSÍNDROME DE MECKEL/ MECKEL-GRUBER/ MECKEL-GRUBER-LIKE NGS PANEL Panel
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 panelMeckel Syndrome Type 1, Sequencing MKS1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the MKS1 gene.
More info about this panelBardet-Biedl Syndrome Type 13 , Sequencing MKS1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the MKS1 gene.
More info about this panelMeckel Syndrome , Panel Massive Sequencing (NGS) 10 Genes Panel
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 panelBardet-Biedl Syndrome , Panel Massive Sequencing (NGS) 18 Genes Panel
By Reference Laboratory Genetics Bardet-Biedl Syndrome , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1 CEP290
More info about this panelplanTrue Extended Panel
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panelSyndromic Hirschsprung Disease: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: BDNF SDCCAG8 SOX10 ARL6 ZEB2 TRIM32 BBS7 TTC8 KIF1BP BBS10
More info about this panelBardet-Biedl Syndrome: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Bardet-Biedl Syndrome: gene sequencing panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1
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