SIX5 gene related symptoms and diseases
All the information presented here about the SIX5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SIX5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Renal insufficiency | Very Common - Between 80% and 100% cases |
| Renal agenesis | Very Common - Between 80% and 100% cases |
| Bilateral renal dysplasia | Very Common - Between 80% and 100% cases |
| Renal hypoplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SIX5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Renal dysplasia
- Preauricular skin tag
- Preauricular pit
Not very common - Between 30% and 50% cases
- Lacrimation abnormality
- Ureteropelvic junction obstruction
- Lacrimal duct stenosis
- Branchial cyst
- Stenosis of the external auditory canal
And 60 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SIX5 gene
Here you will find a list of rare diseases related to the SIX5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BOR SYNDROME
Alternate names
BOR SYNDROME Is also known as melnick-fraser syndrome, branchiootorenal syndrome, branchiootorenal dysplasia
Description
Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
Most common symptoms of BOR SYNDROME
- Hearing impairment
- Sensorineural hearing impairment
- Cleft palate
- High palate
- Myopia
BRANCHIOOTORENAL SYNDROME 2; BOR2
Most common symptoms of BRANCHIOOTORENAL SYNDROME 2; BOR2
- Hearing impairment
- Renal insufficiency
- Renal agenesis
- Renal hypoplasia
- Renal dysplasia
SOURCES: OMIM
Search interest in SIX5
Potential gene panels for SIX5 gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panelOtoSCOPE Panel
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panelHearing Loss Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panelOtoSeq Hearing Loss 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 OtoSeq Hearing Loss Panel by next-generation sequencing (NGS) that also includes the following genes: SIX1 SIX5 TMPRSS3 USH1C USH2A CLRN1 CDH23 PCDH15 USH1G WHRN
More info about this panelBranchiootorenal Spectrum Disorder Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Branchiootorenal Spectrum Disorder Panel that also includes the following genes: SIX1 SIX5 EYA1
More info about this panelSIX5 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SIX5 gene.
More info about this panelOtoSeq Hearing Loss Deletion/Duplication Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center OtoSeq Hearing Loss Deletion/Duplication Panel that also includes the following genes: SIX1 SIX5 TMPRSS3 USH1C USH2A CLRN1 CDH23 PCDH15 USH1G TMC1
More info about this panelSIX5 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SIX5 gene.
More info about this panelBranchiootorenal Spectrum Disorder Deletion/Duplication Panel Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Branchiootorenal Spectrum Disorder Deletion/Duplication Panel that also includes the following genes: SIX1 SIX5 EYA1
More info about this panelBranchio-oto-renal Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Branchio-oto-renal Del/Dup Panel that also includes the following genes: SIX1 SIX5 EYA1
More info about this panelBranchio-oto-renal Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Branchio-oto-renal Seq Analysis that also includes the following genes: SIX1 SIX5 EYA1
More info about this panelBranchio-oto-renal Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Branchio-oto-renal Seq + Del/Dup Panel that also includes the following genes: SIX1 SIX5 EYA1
More info about this panelCraniofacial Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panelCraniofacial Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panelCraniofacial Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panelBranchiootorenal syndrome 2 (sequence analysis of SIX5 gene) Panel
By CGC Genetics
This panel specifically test the SIX5 gene.
More info about this panelSyndromic deafness (NGS panel for 62 genes) Panel
By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panelSyndromic and non syndromic deafness (NGS panel for 127 genes) Panel
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panelTest for SIX5-Related Branchiootorenal Spectrum Disorders Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SIX5 gene.
More info about this panelBranchiootorenal Syndrome via SIX5 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SIX5 gene.
More info about this panelBranchiootorenal Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Branchiootorenal Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SIX1 SIX5 EYA1
More info about this panelCongenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B
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 panelNephrology Endocrinology and Electrolytes - panels Panel
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panelSIX5-Related Branchiootorenal Spectrum Disorders Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the SIX5 gene.
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelSyndromic Hearing Loss Panel Panel
By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR
More info about this panelRenal Dysplasia, Renal Agenesia, CAKUT Panel Panel
By CeGaT GmbH Renal Dysplasia, Renal Agenesia, CAKUT Panel that also includes the following genes: ROBO2 SDCCAG8 BMP4 SIX1 SIX5 SPRY1 TBX18 HNF1B TFAP2A UPK3A
More info about this panelBranchiootorenal Syndrome Panel Panel
By CeGaT GmbH Branchiootorenal Syndrome Panel that also includes the following genes: SIX1 SIX5 TFAP2A EYA1
More info about this panelCystic Kidney Disease Panel Panel
By CeGaT GmbH Cystic Kidney Disease Panel that also includes the following genes: SIX5 HNF1B UMOD BICC1 EYA1 MUC1 PAX2 PKD2 PKHD1
More info about this panelBranchiootorenal Syndrome Panel
By Asper Biogene Asper Biogene LLC Branchiootorenal Syndrome that also includes the following genes: SIX1 SIX5 EYA1
More info about this panelBranchiootorenal syndrome 2 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the SIX5 gene.
More info about this panelBranchiootorenal syndrome 2 Panel
By MedGene
This panel specifically test the SIX5 gene.
More info about this panelHearing Loss: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panelSIX5 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SIX5 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 panelComprehensive Hearing Loss and Deafness Panel Panel
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panelBranchio-Oto-Renal (BOR) Syndrome Panel Panel
By Blueprint Genetics Branchio-Oto-Renal (BOR) Syndrome Panel that also includes the following genes: SIX1 SIX5 TFAP2A EYA1
More info about this panelRenal Malformation Panel Panel
By Blueprint Genetics Renal Malformation Panel that also includes the following genes: ROBO2 SALL1 BMP4 SIX1 SIX5 HNF1B WT1 ACTG2 FREM1 FREM2
More info about this panelCystic Kidney Disease Panel Panel
By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS
More info about this panelSyndromic Hearing Loss Panel Panel
By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK
More info about this panelKabuki Syndrome Panel Panel
By Blueprint Genetics Kabuki Syndrome Panel that also includes the following genes: SIX5 KDM6A CHD7 EYA1 FLNB IRF6 KMT2D
More info about this panelCystic Disease and Nephronopthisis Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Cystic Disease and Nephronopthisis Gene Set that also includes the following genes: SIX5 HNF1B UMOD NEK8 INVS CRB2 NPHP4 BICC1 AHI1 TTC21B
More info about this panelOtogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panelBOR SYNDROME (BRANCHIO-OTO-RENAL) Panel
By Laboratorio de Genetica Clinica SL BOR SYNDROME (BRANCHIO-OTO-RENAL) that also includes the following genes: SIX1 SIX5 EYA1
More info about this panelKABUKI/KABUKI-LIKE SYNDROME NGS PANEL Panel
By Laboratorio de Genetica Clinica SL KABUKI/KABUKI-LIKE SYNDROME NGS PANEL that also includes the following genes: SIX1 SIX5 KDM6A MACROD2 CHD7 KDM1A EYA1 FLNB HNRNPK IRF6
More info about this panelCONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel
By Laboratorio de Genetica Clinica SL CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 HNF1B UMOD UPK3A
More info about this panelBranchio-Oto-Renal Syndrome Type 2 , Sequencing SIX5 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SIX5 gene.
More info about this panelBranchiootorenal Spectrum Disorders, Panel Massive Sequencing (NGS) EYA1, SIX1, SIX5 Genes Panel
By Reference Laboratory Genetics Branchiootorenal Spectrum Disorders, Panel Massive Sequencing (NGS) EYA1, SIX1, SIX5 Genes that also includes the following genes: SIX1 SIX5 EYA1
More info about this panelBranchiootorenal Spectrum Disorder: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Branchiootorenal Spectrum Disorder: gene sequencing panel that also includes the following genes: SIX1 SIX5 EYA1
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