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Autosomal dominant nonsyndromic hearing loss 68(DFNA68)

MedGen UID:
898808
•Concept ID:
C4225240
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 68
 
Gene (location): HOMER2 (15q25.2)
 
Monarch Initiative: MONDO:0014740
OMIM®: 616707

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene. [from MONDO]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature

Professional guidelines

PubMed

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL
Hum Mutat 2013 Apr;34(4):539-45. Epub 2013 Feb 19 doi: 10.1002/humu.22268. PMID: 23280582Free PMC Article

Recent clinical studies

Etiology

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article

Diagnosis

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL
Hum Mutat 2013 Apr;34(4):539-45. Epub 2013 Feb 19 doi: 10.1002/humu.22268. PMID: 23280582Free PMC Article

Prognosis

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL
Hum Mutat 2013 Apr;34(4):539-45. Epub 2013 Feb 19 doi: 10.1002/humu.22268. PMID: 23280582Free PMC Article

Clinical prediction guides

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL
Hum Mutat 2013 Apr;34(4):539-45. Epub 2013 Feb 19 doi: 10.1002/humu.22268. PMID: 23280582Free PMC Article

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    Clinical resources

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    • PubMed
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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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