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GTR Home > Conditions/Phenotypes > Autosomal recessive nonsyndromic hearing loss 1A

Autosomal recessive nonsyndromic hearing loss 1A

Synonyms
Connexin 26 deafness; DFNB 1 Nonsyndromic Hearing Loss and Deafness; Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; Nonsyndromic Hearing Loss and Deafness, DFNB1

Summary

Excerpted from the GeneReview: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss
GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital (present at birth) severe-to-profound non-progressive sensorineural hearing loss in many world populations. In countries where available, newborn hearing screening (NBHS) typically identifies severe-to-profound hearing loss. GJB2-AR NSHL can also be mild to moderate and is usually not progressive; however, it can progress. Congenital mild-to-moderate GJB2-AR NSHL is not detected by NBHS. GJB2-AR NSHL has no related systemic findings.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Richard JH Smith
Hela Azaiez
Kevin Booth
view full author information

Available tests

141 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (141 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAPS, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, GJB2
    Summary: gap junction protein beta 2

  • Also known as: CX31, DFNA2, DFNA2B, EKV, EKVP1, GJB3
    Summary: gap junction protein beta 3

  • Also known as: CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, GJB6
    Summary: gap junction protein beta 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • NICE, 2019
    Cochlear implants for children and adults with severe to profound deafness (2019 Update)
  • NICE, 2009
    National Institute for Health and Clinical Excellence, Cochlear implants for children and adults with severe to profound deafness, 2009 [See 2019 Update, TA566]

Molecular resources

Consumer resources

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