RYR1 Pre-Quiz

To Clinic We Go!

100

This is a good first-step when reviewing a pediatric patient's health record: (A) Birth History, (B) Genetic Testing Reports, (C) Imaging Results, (D) All of the above

What is D, all of the above?

200

T/F: The more complex or greater amount of findings, the increased likelihood that there is an underlying genetic cause.

What is true?

The Song "It's Tricky!" Was Written About Variant Interpretation

100

In a gene/condition with both AD & AR inheritance, this cannot be used to determine the inheritance pattern of the patient's variant: (A) patient phenotype, (B) gene domain, (C) family history, (D) variant classification

What is D, variant classification?

200

FREE RESPONSE: While reviewing a pediatric referral, you notice a previous WES report that notes a VUS. These could be some considerations in preparing for the case.

What is inheritance?

What is family history?

What are psychosocial considerations?

What are variant classification updates? 

Missencellaneous

100

This channel is most involved in RYR1-dependent muscle contraction: (A) Sodium, (B) Calcium, (C) Potassium, (D) Options B & C

What is B, Calcium?

200

Where Marc Rosenbaum received his GC degree!

What is Northwestern?