TPP2:Ensemblv115

tripeptidyl peptidase 2
OMIM: 190470, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TPP2 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
Phenotypes
  • Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220

Green TPP2 in Leukodystrophy - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220