Deafness, Autosomal Recessive 1a; Dfnb1a

Description

An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.

Clinical Features

Phenotypes and symptoms related to Deafness, Autosomal Recessive 1a; Dfnb1a

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Retinopathy
  • Vertigo
  • Vestibular dysfunction

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.


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Deafness, Autosomal Recessive 1a; Dfnb1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GJB2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GJB2
Specificity
100 %
Genes
34 %
GJB2 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

GJB2
Specificity
100 %
Genes
34 %
GJB2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

GJB2
Specificity
100 %
Genes
34 %
GJB2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

GJB2
Specificity
100 %
Genes
34 %
GJB2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

GJB2
Specificity
100 %
Genes
34 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
2 %
Genes
67 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
2 %
Genes
67 %
Connexin 26 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GJB2
Specificity
100 %
Genes
34 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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