Missense variants in TMEM67 in a patient with Joubert syndrome

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

Research output: Contribution to journalArticlepeer-review

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)
Pages (from-to)2189-2192
Number of pages4
JournalClinical Case Reports
Volume6
Issue number11
DOIs
StatePublished - Nov 2018

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

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