Moleculaire diagnostische criteria
Welke gegevens bepalen dat een bevinding aangegeven mag worden als de oorzaak van PTHS als bij DNA een variant in TCF4 gevonden wordt?
Aanbeveling(en)
Moleculaire diagnostische criteria
R3 TCF4 variants can cause PTHS but can also cause other intellectual disability associated phenotypes which should not be labeled PTHS.
A+++
R4 Empirically, after the birth of an individual with molecularly confirmed PTHS, a recurrence risk of 2% should be given.
A++
R5 Interpretation of variants in TCF4 require consideration of the phenotype of the tested individual, pattern of inheritance of the phenotype and the variant, earlier experience with the variant, and nature and localization of the variant, using ACMG criteria.
A+++
