TPP2

tripeptidyl peptidase 2
OMIM: 190470, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TPP2 in COVID-19 research Level 2: Viral research Version 1.141	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 North West GLH Victorian Clinical Genetics Services Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services GRID V2.0 Phenotypes immune thrombocytopenia and autoimmune hemolytic anemia Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome TPP2 deficiency Tripeptidyl-Peptidase II Deficiency Diseases of Immune Dysregulation Evans syndrome Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections
Amber TPP2 in Adult onset leukodystrophy Version 3.24 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes White matter abnormalities Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220
Green TPP2 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services GRID V2.0 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
Green TPP2 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Literature Phenotypes autoimmunity Developmental delay immunodefficiency TPP2-related immune deficiency, autoimmune disease and intellectual disability
Green TPP2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220
Green TPP2 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes TPP2 deficiency