Missense variants in TMEM67 in a patient with Joubert syndrome

Julie M. Huynh, Maureen Galindo, Christina M Laukaitis

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

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)
JournalClinical Case Reports
DOIs
StateAccepted/In press - Jan 1 2018

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

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