- By Sarah Kreykes, MS, CGC
- Posted July 21, 2026
The Gene Scene: TTR
GENE SCENE SPOTLIGHT: This gene has been in the news (and many commercials) due to the impact that emerging treatments have had for some patients diagnosed with TTR Amyloidosis. Clinical Phenotype Summary: The TTR gene encodes the transthyretin protein and is located on chromosome 18q12.1. Pathogenic variants in this…
- By Libby Couchon, MS, LCGC
- Posted July 7, 2026
The Gene Scene: SMAD3
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified…
- By Frankie Fann, MS, CGC
- Posted June 30, 2026
The Gene Scene: POLE
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Aubrey Rose, MS, CGC
- Posted June 16, 2026
The Gene Scene: TRDN
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Nina Buccafuri, MS, CGC
- Posted June 9, 2026
The Gene Team: MSH6
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Moriah Melhado, MSPH, LCGC
- Posted May 26, 2026
The Gene Scene: ATP7B
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Haley Streff, MS, CGC
- Posted May 19, 2026
The Gene Scene: RYR2
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Jewel Wasson, MS, CGC
- Posted May 12, 2026
The Gene Scene: SDHB
to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early. Here,…
- By Connolly Steigerwald, MS, CGC
- Posted May 5, 2026
The Gene Scene: MYBPC3
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…
- By Bradley Power, MS, CGC
- Posted April 28, 2026
The Gene Scene: RYR1
Welcome to the Gene Scene! Each week, we will explore a gene from the ACMG Secondary Findings list—genes identified by the American College of Medical Genetics and Genomics as having clear, actionable health implications. These genes are included because they’re linked to serious but preventable or manageable conditions when identified early.…