Branchiootorenal Syndrome 1; Bor1

Description

Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed (Fraser et al., 1978). Genetic Heterogeneity of Branchiootorenal SyndromeSee also BOR2 (OMIM ), caused by mutation in the SIX5 gene (OMIM ) on chromosome 19q13. Sanchez-Valle et al. (2010) stated that approximately 40% of patients with BOR have mutations in the EYA1 gene and 5% have mutations in the SIX5 gene.See also branchiootic (BO) syndrome-1 (BOS1 ) and the otofaciocervical syndrome (OFC ), allelic disorders showing overlapping phenotypes but without renal anomalies. See also {600257} for a discussion of the BOR-Duane-hydrocephalus contiguous gene syndrome as described by Vincent et al. (1994).Although Melnick et al. (1978) maintained that the BOR syndrome is distinct from the BO syndrome because in the latter condition renal anomaly is absent and deafness is not a constant feature, Cremers and Fikkers-van Noord (1980) concluded that the 2 syndromes are in fact a single entity.

Clinical Features

Top most frequent phenotypes and symptoms related to Branchiootorenal Syndrome 1; Bor1

  • Pica
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia
  • Tics
  • Dysphagia
  • Renal insufficiency
  • Microphthalmia
And another 64 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Branchiootorenal Syndrome 1; Bor1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
2 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
2 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)

View the complete list with 102 more genes
Specificity
3 %
Genes
100 %
OtoSeq Hearing Loss Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1 , (...)

View the complete list with 3 more genes
Specificity
14 %
Genes
100 %
Branchiootorenal Spectrum Disorder Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

EYA1, SIX5, SIX1
Specificity
100 %
Genes
100 %
SIX5 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SIX5
Specificity
100 %
Genes
34 %
OtoSeq Hearing Loss Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

USH1G, USH1C, EYA1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, CDH23, MYO7A, GJB2, GJB6, POU3F4, KCNJ10, MYO6, OTOF, SIX5, TMPRSS3, SIX1, TMC1 , (...)

View the complete list with 2 more genes
Specificity
14 %
Genes
100 %
SIX5 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SIX5
Specificity
100 %
Genes
34 %
Branchiootorenal Spectrum Disorder Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

EYA1, SIX5, SIX1
Specificity
100 %
Genes
100 %
Branchio-oto-renal Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EYA1, SIX5, SIX1
Specificity
100 %
Genes
100 %
Branchio-oto-renal Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EYA1, SIX5, SIX1
Specificity
100 %
Genes
100 %
Branchio-oto-renal Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EYA1, SIX5, SIX1
Specificity
100 %
Genes
100 %
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
7 %
Genes
100 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
7 %
Genes
100 %
Craniofacial Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

RECQL4, ALPL, EYA1, DHODH, CHD7, RUNX2, PRKAR1A, SALL1, POLR1C, SIX5, TCOF1, SIX1, POLR1D, WDR35, RAB23, POR, MSX2, TWIST1, SKI, GLI3 , (...)

View the complete list with 23 more genes
Specificity
7 %
Genes
100 %
Branchiootorenal syndrome 2 (sequence analysis of SIX5 gene).

By CGC Genetics in Portugal.

SIX5
Specificity
100 %
Genes
34 %
Syndromic deafness (NGS panel for 62 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
5 %
Genes
100 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)

View the complete list with 107 more genes
Specificity
3 %
Genes
100 %
Test for SIX5-Related Branchiootorenal Spectrum Disorders.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

SIX5
Specificity
100 %
Genes
34 %
Branchiootorenal Syndrome via SIX5 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SIX5
Specificity
100 %
Genes
34 %
Branchiootorenal Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, SIX5, SIX1
Specificity
100 %
Genes
100 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, HNF1B, RET, PAX2, FGFR2, NIPBL, UMOD, SALL1, SIX5, SIX1, GATA3, MYH9, FOXP1, FAT4, GLI2, GLI3, SOX11, ACE, FREM1, BMP4 , (...)

View the complete list with 29 more genes
Specificity
7 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Nephrology Endocrinology and Electrolytes - panels.

By MGZ Medical Genetics Center in Germany.

VHL, ALPL, HNF1A, NEUROD1, EYA1, WT1, HNF1B, RET, OCRL, GCK, COQ9, PDSS2, COQ6, CYP24A1, COQ2, AGXT, SLC3A1, LMX1B, PAX2, GLA , (...)

View the complete list with 97 more genes
Specificity
3 %
Genes
100 %
SIX5-Related Branchiootorenal Spectrum Disorders.

By Bioscientia GmbH Center for Human Genetics in Germany.

SIX5
Specificity
100 %
Genes
34 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Syndromic Hearing Loss Panel.

By CeGaT GmbH in Germany.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
5 %
Genes
100 %
Renal Dysplasia, Renal Agenesia, CAKUT Panel.

By CeGaT GmbH in Germany.

EYA1, WT1, HNF1B, RET, FOXC1, NPHP3, PAX2, GATA2, SIX5, SIX1, GATA3, TFAP2A, SDCCAG8, FREM1, BMP4, GRIP1, FREM2, FRAS1, GDNF, SOX17 , (...)

View the complete list with 12 more genes
Specificity
10 %
Genes
100 %
Branchiootorenal Syndrome Panel.

By CeGaT GmbH in Germany.

EYA1, SIX5, SIX1, TFAP2A
Specificity
75 %
Genes
100 %
Cystic Kidney Disease Panel.

By CeGaT GmbH in Germany.

EYA1, HNF1B, PAX2, PKHD1, UMOD, PKD2, SIX5, MUC1, BICC1
Specificity
23 %
Genes
67 %
Branchiootorenal Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

EYA1, SIX5, SIX1
Specificity
100 %
Genes
100 %
Branchiootorenal syndrome 2.

By Praxis fuer Humangenetik Wien in Austria.

SIX5
Specificity
100 %
Genes
34 %
Branchiootorenal syndrome 2.

By MedGene in Slovakia.

SIX5
Specificity
100 %
Genes
34 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)

View the complete list with 111 more genes
Specificity
3 %
Genes
100 %
SIX5.

By Fulgent Genetics Fulgent Genetics in United States.

SIX5
Specificity
100 %
Genes
34 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
2 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
2 %
Genes
100 %
Branchio-Oto-Renal (BOR) Syndrome Panel.

By Blueprint Genetics in Finland.

EYA1, SIX5, SIX1, TFAP2A
Specificity
75 %
Genes
100 %
Renal Malformation Panel.

By Blueprint Genetics in Finland.

EYA1, WT1, HNF1B, RET, PAX2, SALL1, SIX5, SIX1, GATA3, FOXC2, FANCB, ACTG2, ACE, FREM1, BMP4, FREM2, CCNQ, REN, AGT, ROBO2 , (...)

View the complete list with 2 more genes
Specificity
14 %
Genes
100 %
Cystic Kidney Disease Panel.

By Blueprint Genetics in Finland.

VHL, INVS, EYA1, LRP5, HNF1B, JAG1, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, COL4A1 , (...)

View the complete list with 20 more genes
Specificity
5 %
Genes
67 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
4 %
Genes
100 %
Kabuki Syndrome Panel.

By Blueprint Genetics in Finland.

EYA1, CHD7, KMT2D, SIX5, KDM6A, IRF6, FLNB
Specificity
29 %
Genes
67 %
Cystic Disease and Nephronopthisis Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

INVS, EYA1, HNF1B, TMEM67, NPHP3, NPHP1, CEP290, NPHP4, XPNPEP3, IQCB1, PAX2, PKHD1, AHI1, UMOD, PKD2, PKD1, SIX5, TTC21B, RPGRIP1L, NEK8 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
67 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
2 %
Genes
67 %
BOR SYNDROME (BRANCHIO-OTO-RENAL).

By Laboratorio de Genetica Clinica SL in Spain.

EYA1, SIX5, SIX1
Specificity
100 %
Genes
100 %
Branchio-Oto-Renal Syndrome Type 2 , Sequencing SIX5 Gene.

By Reference Laboratory Genetics in Spain.

SIX5
Specificity
100 %
Genes
34 %
Branchiootorenal Spectrum Disorders, Panel Massive Sequencing (NGS) EYA1, SIX1, SIX5 Genes.

By Reference Laboratory Genetics in Spain.

EYA1, SIX5, SIX1
Specificity
100 %
Genes
100 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
34 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2 , (...)

View the complete list with 71 more genes
Specificity
3 %
Genes
67 %
Branchiootorenal Syndrome - EYA1 Sequencing & Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States.

EYA1
Specificity
100 %
Genes
34 %
Test for EYA1-Related Branchiootorenal Spectrum Disorders.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

EYA1
Specificity
100 %
Genes
34 %
Anterior segment defects.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

EYA1, PAX6, PITX3, FOXC1, PITX2, CYP1B1, PAX2, PORCN, LAMB2, COL4A1, FOXE3, B3GLCT, KERA
Specificity
8 %
Genes
34 %
EYA1 sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

EYA1
Specificity
100 %
Genes
34 %
EYA1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

EYA1
Specificity
100 %
Genes
34 %
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A , (...)

View the complete list with 90 more genes
Specificity
2 %
Genes
67 %
ExomePLUS Cystic Disease & Dysplasia/Agenesis.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

INVS, EYA1, WT1, HNF1B, NPHP3, NPHP1, CEP290, NPHP4, IQCB1, PAX2, TSC2, TSC1, PKHD1, UMOD, PKD2, GATA3, ACE, BMP4, ANKS6, FRAS1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
EYA1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

EYA1
Specificity
100 %
Genes
34 %
EYA1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

EYA1
Specificity
100 %
Genes
34 %
EYA1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

EYA1
Specificity
100 %
Genes
34 %
EYA1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

EYA1
Specificity
100 %
Genes
34 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2 , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
67 %
Branchiootorenal syndrome 1 (sequence analysis of EYA1 gene).

By CGC Genetics in Portugal.

EYA1
Specificity
100 %
Genes
34 %
Cataracts (NGS panel for 41 genes).

By CGC Genetics in Portugal.

EYA1, PAX6, PITX3, WFS1, NHS, CRYAB, AGK, FYCO1, GJA3, GALT, GALK1, SIL1, MAF, FOXE3, CTDP1, FTL, CRYBA4, GJA8, GCNT2, CRYBB1 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
34 %
Branchiootorenal syndrome type 1 (BOR1, deletion/duplication analysis of EYA1 gene).

By CGC Genetics in Portugal.

EYA1
Specificity
100 %
Genes
34 %
Branchiootorenal syndrome type 1 (BOR1, deletion/duplication analysis of EYA1 gene).

By CGC Genetics in Portugal.

EYA1
Specificity
100 %
Genes
34 %
BRANCHIOOTORENAL SYNDROME 1.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique in Belgium.

EYA1
Specificity
100 %
Genes
34 %
Melnick-Fraser syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

EYA1
Specificity
100 %
Genes
34 %
EYA1-Related Branchiootorenal Spectrum Disorders.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

EYA1
Specificity
100 %
Genes
34 %
Branchiootorenal syndrome via the EYA1 Gene.

By PreventionGenetics PreventionGenetics in United States.

EYA1
Specificity
100 %
Genes
34 %
Congenital Cataracts Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
34 %
Cataract.

By MGZ Medical Genetics Center in Germany.

EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
34 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
Genes
34 %
Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome.

By MGZ Medical Genetics Center in Germany.

EYA1, PAX6, FOXC1, PITX2, CYP1B1, MYOC, COL4A1, FOXE3, LTBP2, B3GLCT, COL4A2, ASPH, SLC38A8, MIR184
Specificity
8 %
Genes
34 %
EYA1-Related Branchiootorenal Spectrum Disorders.

By Bioscientia GmbH Center for Human Genetics in Germany.

EYA1
Specificity
100 %
Genes
34 %
EYA1.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

EYA1
Specificity
100 %
Genes
34 %
Otofaciocervical syndrome.

By Centogene AG - the Rare Disease Company in Germany.

EYA1
Specificity
100 %
Genes
34 %
Cataract panel.

By Centogene AG - the Rare Disease Company in Germany.

EYA1, PAX6, PITX3, WFS1, FOXC1, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, MAF, FOXE3, CTDP1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
34 %
Otofaciocervical syndrome.

By Centogene AG - the Rare Disease Company in Germany.

EYA1
Specificity
100 %
Genes
34 %
Branchiootorenal syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

EYA1
Specificity
100 %
Genes
34 %
Cataract Panel.

By CeGaT GmbH in Germany.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIL1, MAF, FOXE3, FTL, CRYBA4, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
34 %
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis.

By Asper Biogene Asper Biogene LLC in Estonia.

RAX, EYA1, VSX1, PAX6, ABCB6, FOXC1, PITX2, MFRP, OTX2, CYP1B1, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, CHD7, COL4A1, GDF6, FOXE3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
34 %
Cataract.

By Asper Biogene Asper Biogene LLC in Estonia.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, BCOR, GALK1, SIX6, SIL1, MAF, CTDP1, GJA1, FTL, VSX2, CRYBA4, GJA8, GCNT2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
34 %
Branchiootorenal syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

EYA1
Specificity
100 %
Genes
34 %
Otofaciocervical syndrome.

By Praxis fuer Humangenetik Wien in Austria.

EYA1
Specificity
100 %
Genes
34 %
qChip.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...)

View the complete list with 106 more genes
Specificity
1 %
Genes
34 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...)

View the complete list with 116 more genes
Specificity
2 %
Genes
67 %
Branchiootorenal syndrome 1.

By MedGene in Slovakia.

EYA1
Specificity
100 %
Genes
34 %
Otofaciocervical syndrome.

By MedGene in Slovakia.

EYA1
Specificity
100 %
Genes
34 %
Invitae Branchiootorenal Spectrum Disorders Panel.

By Invitae in United States.

EYA1, SIX1
Specificity
100 %
Genes
67 %
Branchiootorenal syndrome: EYA1 gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

EYA1
Specificity
100 %
Genes
34 %
Branchiootorenal syndrome: EYA1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

EYA1
Specificity
100 %
Genes
34 %
Hearing Loss: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, EYA4, HSD17B4, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2 , (...)

View the complete list with 71 more genes
Specificity
3 %
Genes
67 %
Hearing Loss NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2 , (...)

View the complete list with 83 more genes
Specificity
2 %
Genes
67 %
EYA1.

By Fulgent Genetics Fulgent Genetics in United States.

EYA1
Specificity
100 %
Genes
34 %
Cataract Panel.

By Blueprint Genetics in Finland.

RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
34 %
Otofaciocervical syndrome.

By Bioarray in Spain.

EYA1
Specificity
100 %
Genes
34 %
Branchiootorenal syndrome.

By Bioarray in Spain.

EYA1
Specificity
100 %
Genes
34 %
Branchiootorenal syndrome.

By Bioarray in Spain.

EYA1
Specificity
100 %
Genes
34 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
34 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
34 %
Branchio-Oto-Renal Syndrome Type 1, Sequencing EYA1 Gene.

By Reference Laboratory Genetics in Spain.

EYA1
Specificity
100 %
Genes
34 %
Otofaciocervical Syndrome , Sequencing EYA1 Gene.

By Reference Laboratory Genetics in Spain.

EYA1
Specificity
100 %
Genes
34 %
Branchio-Oto-Renal Syndrome Type 1, Deletions-Duplications (MLPA) EYA1 Gene.

By Reference Laboratory Genetics in Spain.

EYA1
Specificity
100 %
Genes
34 %
Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes.

By Reference Laboratory Genetics in Spain.

EYA1, PAX6, PITX3, NHS, CRYAB, AGK, FYCO1, GJA3, GALK1, SLC33A1, SIL1, MAF, FOXE3, CTDP1, CRYBA4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
34 %
SIX1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SIX1
Specificity
100 %
Genes
34 %
SIX1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SIX1
Specificity
100 %
Genes
34 %
SIX1 Gene Sequencing.

By GeneDx in United States.

SIX1
Specificity
100 %
Genes
34 %
Deafness, autosomal dominant 23 (sequence analysis of SIX1 gene).

By CGC Genetics in Portugal.

SIX1
Specificity
100 %
Genes
34 %
Non syndromic deafness AD (NGS panel for 33 genes).

By CGC Genetics in Portugal.

EYA4, WFS1, DIABLO, MYO7A, GJB2, GJB6, ACTG1, COCH, CCDC50, MYO6, GRHL2, COL11A2, CRYM, DSPP, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
34 %
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes).

By CGC Genetics in Portugal.

USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, SLC12A1, KCNJ10, ACTG1, CIB2, CABP2, COCH , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
34 %
Branchiootorenal syndrome via the SIX1 Gene.

By PreventionGenetics PreventionGenetics in United States.

SIX1
Specificity
100 %
Genes
34 %
SIX1-Related Branchiootorenal Spectrum Disorders.

By Bioscientia GmbH Center for Human Genetics in Germany.

SIX1
Specificity
100 %
Genes
34 %
Deafness, autosomal dominant type 23.

By Centogene AG - the Rare Disease Company in Germany.

SIX1
Specificity
100 %
Genes
34 %
Sensorineural Hearing Loss.

By Asper Biogene Asper Biogene LLC in Estonia.

USH1G, USH1C, PDZD7, EYA4, TRMU, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, MYO7A, GJB2, GJB6, POU3F4, BSND , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
34 %
Branchiootorenal syndrome 3.

By Praxis fuer Humangenetik Wien in Austria.

SIX1
Specificity
100 %
Genes
34 %
Deafness, autosomal dominant 23.

By Praxis fuer Humangenetik Wien in Austria.

SIX1
Specificity
100 %
Genes
34 %
Branchiootorenal syndrome 3.

By MedGene in Slovakia.

SIX1
Specificity
100 %
Genes
34 %
Deafness, autosomal dominant 23.

By MedGene in Slovakia.

SIX1
Specificity
100 %
Genes
34 %
SIX1.

By Fulgent Genetics Fulgent Genetics in United States.

SIX1
Specificity
100 %
Genes
34 %
Non-Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

USH1C, EYA4, WFS1, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, GJB2, GJB6, POU3F4, MET, BSND, TBC1D24, ACTG1, ADCY1, BDP1 , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
34 %
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

WFS1, GJB2, GJB6, ACTG1, COCH, COL11A2, TECTA, SIX1, GJB3, MYH9
Specificity
10 %
Genes
34 %
Branchiootic Syndrome Type 3 , Sequencing SIX1 Gene.

By Reference Laboratory Genetics in Spain.

SIX1
Specificity
100 %
Genes
34 %
Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

EYA4, WFS1, MYO7A, GJB2, GJB6, TBC1D24, ACTG1, COCH, CCDC50, MYO6, GRHL2, HOMER2, COL11A2, CRYM, DIAPH1, KCNQ4, SLC17A8, TECTA, SIX1, TNC , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
34 %

Alternate names

Branchiootorenal Syndrome 1; Bor1 Is also known as branchiootorenal dysplasia, melnick-fraser syndrome;branchiootorenal syndrome.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4 MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2

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