TPSAB1

tryptase alpha/beta 1
OMIM: 191080, Gene2Phenotype

2 panels

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


Level 2: Musculoskeletal
Version 4.6
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
Green TPSAB1 in Hereditary alpha tryptasaemia


Level 2: Immunology
Version 1.4
Latest signed off version: v1.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Tags
  • gene-checked