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Deafness, autosomal recessive 121(DFNB121)

MedGen UID:
1051072
•Concept ID:
CN375630
•
Disease or Syndrome
Synonym: DFNB121
 
Gene (location): GPR156 (3q13.33)
 
Monarch Initiative: MONDO:0957825
OMIM®: 620551

Definition

Autosomal recessive deafness-121 (DFNB121) is characterized by congenital or prelingual moderate sensorineural hearing loss (Ramzan et al., 2023). [from OMIM]

Recent clinical studies

Diagnosis

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.
Zhou B, Yu L, Wang Y, Shang W, Xie Y, Wang X, Han F
BMC Med Genet 2020 Jun 1;21(1):121. doi: 10.1186/s12881-020-01055-5. PMID: 32487028Free PMC Article

Prognosis

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.
Zhou B, Yu L, Wang Y, Shang W, Xie Y, Wang X, Han F
BMC Med Genet 2020 Jun 1;21(1):121. doi: 10.1186/s12881-020-01055-5. PMID: 32487028Free PMC Article

Clinical prediction guides

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.
Zhou B, Yu L, Wang Y, Shang W, Xie Y, Wang X, Han F
BMC Med Genet 2020 Jun 1;21(1):121. doi: 10.1186/s12881-020-01055-5. PMID: 32487028Free PMC Article

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    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

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