Experience stories

Molecular Diagnostic Criteria


Which data determine that a finding may be indicated if the cause of PTHS is found as a variant in TCF4 for DNA?
On the basis of which characteristics of the DNA can the diagnosis PTHS be made?

Recommendation(s)

Molecular Diagnostic Criteria

R3

R3 TCF4 variants can cause PTHS but can also cause other intellectual disability associated phenotypes which should not be labeled PTHS.
A+++

R4

R4 Empirically, after the birth of an individual with molecularly confirmed PTHS, a recurrence risk of 2% should be given.
A++

R5

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+++

Nobody shared a story (yet) on Molecular Diagnostic Criteria, please share your story on this topic!


                                                                                                                                                                                                                                                                                                               

                                                                                                                                                                                                                                                                                                                                                                                                                                                      

topic holding this topic
Diagnostics
'
Experience stories

  

Deepen your knowledge of Pitt-Hopkins syndrome

We organize our stories about Pitt-Hopkins syndrome in topics. You can browse our topics below. Below each topic you might find more detailed topics with stories that might be of interest to you.

About the website contents

 

All of the information on this WebSite is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know at: 

Send a email: wiki@waihonapedia.org