Missense variants in TMEM67 in a patient with Joubert syndrome

Julie M. Huynh, Maureen Galindo, Christina M. Laukaitis

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


We present a patient with a clinical diagnosis of Joubert syndrome with COACH phenotype who carries two TMEM67 variants of uncertain significance (VUS). One VUS can be reclassified as “likely pathogenic” by adding clinical data. As genetic testing becomes more accessible, more VUS will require clinical correlation for accurate classification.

Original languageEnglish (US)
Pages (from-to)2189-2192
Number of pages4
JournalClinical Case Reports
Issue number11
StatePublished - Nov 2018


  • Joubert syndrome
  • TMEM67
  • genetic testing
  • molar tooth sign
  • variants of uncertain significance

ASJC Scopus subject areas

  • General Medicine


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