Missense variants in TMEM67 in a patient with Joubert syndrome

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

doi:10.1002/ccr3.1748

Missense variants in TMEM67 in a patient with Joubert syndrome

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

Medicine

Research output: Contribution to journal › Article › peer-review

4 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 language	English (US)
Pages (from-to)	2189-2192
Number of pages	4
Journal	Clinical Case Reports
Volume	6
Issue number	11
DOIs	https://doi.org/10.1002/ccr3.1748
State	Published - Nov 2018

Keywords

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

ASJC Scopus subject areas

General Medicine

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10.1002/ccr3.1748

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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.",

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AB - 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.

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KW - genetic testing

KW - molar tooth sign

KW - variants of uncertain significance

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Missense variants in TMEM67 in a patient with Joubert syndrome

Abstract

Keywords

ASJC Scopus subject areas

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