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 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

review Unknown
Sources
  • Expert Review
  • Literature
Phenotypes
  • ?Mast cell dysfunction (with joint hypermobility)
Tags
  • gene-checked
Green TPSAB1 in Hereditary alpha tryptasaemia


Version 1.3
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