Genomics England
GMS Panels
Panels
Genes and Entities

TPP2

tripeptidyl peptidase 2
OMIM: 190470
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autoimmunity, Developmental delay, immunodefficiency, TPP2-related immune deficiency, autoimmune disease and intellectual disability
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tripeptidyl-Peptidase II Deficiency, TPP2 deficiency, Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome, immune thrombocytopenia and autoimmune hemolytic anemia, Evans syndrome, Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections, Diseases of Immune Dysregulation, Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220