SIX1 gene related symptoms and diseases

All the information presented here about the SIX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SIX1 gene

Symptoms // Phenotype % Cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Preauricular pit Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Conductive hearing impairment Common - Between 50% and 80% cases
Preauricular skin tag Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with SIX1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Branchial cyst
  • Not very common - Between 30% and 50% cases

  • Abnormality of the pinna
  • Branchial fistula
  • Lacrimal duct stenosis
  • Cochlear malformation
  • Hypoplasia of the cochlea
  • Mixed hearing impairment
  • Cupped ear

And 77 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SIX1 gene

Here you will find a list of rare diseases related to the SIX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23


Most common symptoms of DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23

  • Hearing impairment
  • Sensorineural hearing impairment
  • Conductive hearing impairment
  • Vesicoureteral reflux
  • Preauricular pit


More info about DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23

SOURCES: OMIM MESH

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


More info about BOR SYNDROME

SOURCES: ORPHANET OMIM

BRANCHIOOTIC SYNDROME


Alternate names

BRANCHIOOTIC SYNDROME Is also known as bo syndrome 1, branchiootic dysplasia

Description

Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

Most common symptoms of BRANCHIOOTIC SYNDROME

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Low-set ears


More info about BRANCHIOOTIC SYNDROME

SOURCES: OMIM ORPHANET

BRANCHIOOTIC SYNDROME 3; BOS3


Alternate names

BRANCHIOOTIC SYNDROME 3; BOS3 Is also known as bo syndrome 3

Most common symptoms of BRANCHIOOTIC SYNDROME 3; BOS3

  • Sensorineural hearing impairment
  • Preauricular skin tag
  • Preauricular pit
  • Lacrimal duct stenosis
  • Branchial cyst


More info about BRANCHIOOTIC SYNDROME 3; BOS3

SOURCES: MESH OMIM

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA


Alternate names

AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA Is also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, autosomal dominant isolated sensorineural deafness type dfna, autosomal dominant isolated sensorineural hearing loss type dfna, autosomal dominant isolated neurosensory deafness type dfna


More info about AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA

SOURCES: ORPHANET


Potential gene panels for SIX1 gene

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

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 panel

NGS Hearing Loss Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A

More info about this panel

OtoSCOPE Panel

United States.

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 panel

Hearing Loss Panel Panel

United States.

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 panel

OtoSeq Hearing Loss 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 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 panel

Branchiootorenal Spectrum Disorder Panel Panel

United States.

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 panel

SIX1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the SIX1 gene.

More info about this panel

OtoSeq Hearing Loss Deletion/Duplication Panel Panel

United States.

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 panel

SIX1 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the SIX1 gene.

More info about this panel

Branchiootorenal Spectrum Disorder Deletion/Duplication Panel Panel

United States.

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 panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A

More info about this panel

SIX1 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the SIX1 gene.

More info about this panel

Branchio-oto-renal Del/Dup Panel Panel

United States.

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 panel

Branchio-oto-renal Seq Analysis Panel

United States.

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 panel

Branchio-oto-renal Seq + Del/Dup Panel Panel

United States.

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 panel

Craniofacial Del/Dup Panel Panel

United States.

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 panel

Audiome (hearing loss panel) Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C

More info about this panel

Craniofacial Seq + Del/Dup Panel Panel

United States.

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 panel

Craniofacial Seq Analysis Panel

United States.

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 panel

Deafness, autosomal dominant 23 (sequence analysis of SIX1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SIX1 gene.

More info about this panel

Syndromic deafness (NGS panel for 62 genes) Panel

Portugal.

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 panel

Non syndromic deafness AD (NGS panel for 33 genes) Panel

Portugal.

By CGC Genetics Non syndromic deafness AD (NGS panel for 33 genes) that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8

More info about this panel

Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel

Portugal.

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 panel

Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel

Portugal.

By CGC Genetics Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) that also includes the following genes: SIX1 SLC12A1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WFS1 ESPN

More info about this panel

Branchiootorenal Syndrome via SIX1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SIX1 gene.

More info about this panel

Branchiootorenal Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Branchiootorenal Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SIX1 SIX5 EYA1

More info about this panel

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel

United States.

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 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

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

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 panel

SIX1-Related Branchiootorenal Spectrum Disorders Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the SIX1 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

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 panel

New Born testing (CentoICU) Panel

Germany.

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 panel

Deafness, autosomal dominant type 23 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SIX1 gene.

More info about this panel

Syndromic Hearing Loss Panel Panel

Germany.

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 panel

Renal Dysplasia, Renal Agenesia, CAKUT Panel Panel

Germany.

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 panel

Branchiootorenal Syndrome Panel Panel

Germany.

By CeGaT GmbH Branchiootorenal Syndrome Panel that also includes the following genes: SIX1 SIX5 TFAP2A EYA1

More info about this panel

Sensorineural Hearing Loss Panel

Estonia.

By Asper Biogene Asper Biogene LLC Sensorineural Hearing Loss that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN

More info about this panel

Branchiootorenal Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Branchiootorenal Syndrome that also includes the following genes: SIX1 SIX5 EYA1

More info about this panel

Branchiootorenal syndrome 3 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SIX1 gene.

More info about this panel

Deafness, autosomal dominant 23 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the SIX1 gene.

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Branchiootorenal syndrome 3 Panel

Slovakia.

By MedGene

This panel specifically test the SIX1 gene.

More info about this panel

Deafness, autosomal dominant 23 Panel

Slovakia.

By MedGene

This panel specifically test the SIX1 gene.

More info about this panel

Invitae Branchiootorenal Spectrum Disorders Panel Panel

United States.

By Invitae Invitae Branchiootorenal Spectrum Disorders Panel that also includes the following genes: SIX1 EYA1

More info about this panel

Hearing Loss: Sequencing Panel Panel

United States.

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 panel

Hearing Loss: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C

More info about this panel

Hearing Loss NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2

More info about this panel

SIX1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SIX1 gene.

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

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

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 panel

Non-Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Non-Syndromic Hearing Loss Panel that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WBP2 WFS1 ESPN

More info about this panel

Branchio-Oto-Renal (BOR) Syndrome Panel Panel

Finland.

By Blueprint Genetics Branchio-Oto-Renal (BOR) Syndrome Panel that also includes the following genes: SIX1 SIX5 TFAP2A EYA1

More info about this panel

Renal Malformation Panel Panel

Finland.

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 panel

Syndromic Hearing Loss Panel Panel

Finland.

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 panel

Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel

United States.

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 panel

DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) that also includes the following genes: SIX1 TECTA WFS1 ACTG1 COCH COL11A2 GJB2 GJB6 MYH9

More info about this panel

BOR SYNDROME (BRANCHIO-OTO-RENAL) Panel

Spain.

By Laboratorio de Genetica Clinica SL BOR SYNDROME (BRANCHIO-OTO-RENAL) that also includes the following genes: SIX1 SIX5 EYA1

More info about this panel

KABUKI/KABUKI-LIKE SYNDROME NGS PANEL Panel

Spain.

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 panel

DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL that also includes the following genes: SIX1 SMPX TECTA TJP2 WFS1 ACTG1 P2RX2 DIAPH3 OSBPL2 CD164

More info about this panel

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) NGS PANEL Panel

Spain.

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 panel

Branchiootic Syndrome Type 3 , Sequencing SIX1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SIX1 gene.

More info about this panel

Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 TMC1 HOMER2 CCDC50 SLC17A8 COCH

More info about this panel

Branchiootorenal Spectrum Disorders, Panel Massive Sequencing (NGS) EYA1, SIX1, SIX5 Genes Panel

Spain.

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 panel

Branchiootorenal Spectrum Disorder: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Branchiootorenal Spectrum Disorder: gene sequencing panel that also includes the following genes: SIX1 SIX5 EYA1

More info about this panel


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