Branchiootorenal Syndrome 2; Bor2

Clinical Features

Phenotypes and symptoms related to Branchiootorenal Syndrome 2; Bor2

  • Hearing impairment
  • Renal insufficiency
  • Renal agenesis
  • Renal hypoplasia
  • Renal dysplasia
  • Preauricular skin tag
  • Preauricular pit
  • Severe hearing impairment
  • Hemifacial hypoplasia
  • Bilateral renal dysplasia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Branchiootorenal Syndrome 2; Bor2 Recommended genes panels

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

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
OtoSCOPE.

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

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Hearing Loss Panel.

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

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
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 (United States).

SIX1, SIX5, TMPRSS3, USH1C, USH2A, CLRN1, CDH23, PCDH15, USH1G, WHRN, TMC1, ADGRV1, TMIE, EYA1, FOXI1, GJB2, GJB6, KCNJ10, MYO6, MYO7A , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Branchiootorenal Spectrum Disorder Panel.

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

SIX1, SIX5, EYA1
Specificity
34 %
Genes
100 %
SIX5 Sequencing.

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

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

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

SIX1, SIX5, TMPRSS3, USH1C, USH2A, CLRN1, CDH23, PCDH15, USH1G, TMC1, ADGRV1, TMIE, EYA1, FOXI1, GJB2, GJB6, KCNJ10, MYO6, MYO7A, OTOF , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
SIX5 Deletion/duplication analysis.

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

SIX5
Specificity
100 %
Genes
100 %

We have 43 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTHEMIA 3; THCYT3 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC; CMS20 BRANCHIOOTORENAL SYNDROME 1; BOR1 FRONTONASAL DYSPLASIA 2; FND2 BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME GLYCOGEN STORAGE DISEASE Ia; GSD1A

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more