TPSAB1

tryptase alpha/beta 1
OMIM: 191080, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red TPSAB1 in Ehlers Danlos syndrome with a likely monogenic cause


Level 2: Musculoskeletal
Version 4.11
Latest signed off version: v4.0 (30 Apr 2025)

review Unknown
Sources
  • Expert Review
  • Literature
Phenotypes
  • ?Mast cell dysfunction (with joint hypermobility)
Tags
  • gene-checked