Katie Hayes, MS, CGC

 

When Sex Chromosomes Modify Monogenic Disease: WDR45‑Related NBIA with Maternal Mosaicism and an XXY Sibling

 

  • Describe the clinical spectrum and natural history of WDR45‑related BPAN within the NBIA disorders.
  • Interpret how exome sequencing with segregation resolved a prior panel VUS to a likely pathogenic diagnosis.
  • Explain key counseling and follow‑up steps for mosaic maternal transmission of an X‑linked WDR45 variant, including how 47,XXY may modulate risk.

 

Mike Volk, MD

Amy Susnow, MD

 

Review of a Complex Patient with Multiple Genetic Findings

  • Analyze genetic testing results and associated phenotypes in the context of a complex patient.
Session date: 
01/21/2026 - 4:00pm to 5:00pm CST
Location: 
Virtually
WI 53705
United States
See map: Google Maps
  • 1.00 AAPA Category 1 CME
  • 1.00 AMA PRA Category 1 Credit™
  • 1.00 ANCC Contact Hours
  • 1.00 CDR CPEUs
  • 1.00 NSGC Category 1 CEU Contact Hours
  • 1.00 University of Wisconsin–Madison Continuing Education Hours
    • 1.00 Approved for AMA PRA Category 1 Credit™
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Presenter(s): 
Katie Hayes, MS, CGC
Mike Volk, MD (peds neurology resident)
Amy Susnow, MD