Discussions

• 1 You must be logged in to vote

  💡

  BCLAF3 and CSNK1E

  hdashnow started Feb 18, 2025 in Locus updates and new loci

  

  

  1
• 1 You must be logged in to vote

  🙏

  How to interpret interruptions and how strict to count?

  b8hale asked Apr 24, 2025 in Q&A · Unanswered

  

  

  1
• 1 You must be logged in to vote

  💬

  Protocol for defining locus coordinates and genotyping definitions

  hdashnow started Feb 4, 2025 in General

  

  

  

  

  11
• 1 You must be logged in to vote

  💡

  Candidate loci with insufficient evidence: folate-sensitive fragile sites + NOTCH2NLC

  wontfix This will not be worked on

  hdashnow started Feb 18, 2025 in Locus updates and new loci

  

  

  1
• 1 You must be logged in to vote

  💬

  Instructions for adding new loci

  hdashnow started Feb 6, 2025 in General

  

  

  0
• 1 You must be logged in to vote

  💡

  EP400 and FAM193B

  hdashnow started Jan 28, 2025 in Locus updates and new loci

  

  

  4
• 1 You must be logged in to vote

  💡

  ZNF850 - DM1 modifier

  hdashnow started Dec 18, 2024 in Locus updates and new loci · Closed

  

  

  1
• 1 You must be logged in to vote

  💡

  Dux4 fshd 3kb repeat d4z4

  hdashnow started Jan 9, 2025 in Locus updates and new loci

  

  

  0
• 2 You must be logged in to vote

  💡

  checking

  laurelhiatt started Nov 26, 2024 in Locus updates and new loci · Closed

  

  

  0
• 1 You must be logged in to vote

  💬

  In text citation formats and auto-replacement

  hdashnow started Oct 30, 2024 in General · Closed

  

  

  

  

  13
• 1 You must be logged in to vote

  💬

  Web Development Discussion

  laurelhiatt started Oct 8, 2024 in General · Closed

  

  

  

  

  17
• 1 You must be logged in to vote

  💡

  STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

  laurelhiatt started Oct 29, 2024 in Locus updates and new loci · Closed

  

  

  0
• 1 You must be logged in to vote

  💡

  Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1

  laurelhiatt started Oct 29, 2024 in Locus updates and new loci · Closed

  

  

  0
• 1 You must be logged in to vote

  💡

  NAXE: new locus

  hdashnow started Oct 29, 2024 in Locus updates and new loci · Closed

  

  

  0
• 1 You must be logged in to vote

  💡

  New locus: TAF1 X-linked dystonia-parkinsonism (XDP)

  hdashnow started Mar 26, 2024 in Locus updates and new loci · Closed

  

  

  6
• 1 You must be logged in to vote

  💡

  FOXL2 pathogenic range check

  hdashnow started Oct 17, 2024 in Locus updates and new loci · Closed

  

  

  1
• 1 You must be logged in to vote

  💡

  FMR1: which category is exactly 200 repeats, premutation or full?

  hdashnow started Oct 18, 2024 in Locus updates and new loci · Closed

  

  

  1
• 1 You must be logged in to vote

  💡

  POLG: clarify modifier vs mendelian associations

  hdashnow started Jun 14, 2024 in Locus updates and new loci · Closed

  

  

  0
• 1 You must be logged in to vote

  💬

  Should we add a field for quality of evidence, or similar?

  hdashnow started Jun 14, 2024 in General · Closed

  

  

  0
• 1 You must be logged in to vote

  💡

  FGF14 associated with idiopathic downbeat nystagmus at 200–249 repeats

  hdashnow started Mar 22, 2024 in Locus updates and new loci

  

  

  0