Deafness, Autosomal Recessive 102; Dfnb102

Clinical Features

Phenotypes and symptoms related to Deafness, Autosomal Recessive 102; Dfnb102

  • Hearing impairment
  • Profound hearing impairment

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.

Deafness, Autosomal Recessive 102; Dfnb102 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 %
OtoGenome Test for Hearing Loss (110 Genes).

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

BCS1L, SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CLIC5, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15 , (...)

View the complete list with 89 more genes
Specificity
1 %
Genes
100 %
Audiome (hearing loss panel).

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

BCS1L, SIX1, SNAI2, SMPX, SOX10, SUCLA2, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, PCDH15, OSBPL2 , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

RPS6KA3, SALL1, SIX1, SIX5, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, CLIC5, CDH23, CABP2 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
100 %
EPS8.

By Fulgent Genetics Fulgent Genetics (United States).

EPS8
Specificity
100 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics (Finland).

BCS1L, RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, SUCLA2, SUCLG1, TWNK, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3 , (...)

View the complete list with 157 more genes
Specificity
1 %
Genes
100 %
Non-Syndromic Hearing Loss Panel.

By Blueprint Genetics (Finland).

SIX1, SMPX, TECTA, TJP2, TMPRSS3, USH1C, TSPEAR, WBP2, WFS1, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, ACTG1, PCDH15, P2RX2, DIAPH3, OSBPL2 , (...)

View the complete list with 74 more genes
Specificity
2 %
Genes
100 %

You can get up to 1 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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