GTR Home > Conditions/Phenotypes > Deafness, autosomal recessive 1A

Summary

Nonsyndromic hearing loss and deafness (DFNB1) is characterized by congenital, non-progressive, mild-to-profound sensorineural hearing impairment. No other associated medical findings are present. [from GeneReviews]

Associated genes

  • Also known as: CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, GJB2
    Summary: gap junction protein, beta 2, 26kDa

  • Also known as: CX31, DFNA2, DFNA2B, EKV, GJB3
    Summary: gap junction protein, beta 3, 31kDa

  • Also known as: CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, GJB6
    Summary: gap junction protein, beta 6, 30kDa

Clinical features

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Go to complete MedGen record for Deafness, autosomal recessive 1A

Clinical resources

Practice guidelines

  • NICE, 2009
    National Institute for Health and Clinical Excellence, Cochlear implants for children and adults with severe to profound deafness, 2009
  • ACMG, 2002
    Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss

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