CTLA4

cytotoxic T-lymphocyte associated protein 4
OMIM: 123890, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CTLA4 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.24

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • CTLA4 deficiency

Red CTLA4 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

review Not set
Sources
  • Literature

Green CTLA4 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.61

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • CTLA4 deficiency

Green CTLA4 in COVID-19 research


Level 2: Viral research
Version 1.80

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • IUIS Classification February 2018
  • A- or hypo-gammaglobulinaemia v1.25
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type V
  • interstitual lung disease
  • autoimmunity
  • lymphadenopathy
  • T cell lymphopenia
  • Combined immunodeficiency
  • Immune dysregulation
  • a broad range of autoimmune phenomena have been described along with polyclonal lymphocytic infiltrates. Susceptibility to infection and hypogammaglobulinaemia are not usually present in isolation
  • Diseases of Immune Dysregulation
  • Early-onset multi-organ autoimmune disease
  • Autoimmune lymphoproliferative syndrome, type V 616100
  • hypogammaglobulinaemia
  • enteropathy
  • Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections
  • CVID

Green CTLA4 in Primary immunodeficiency


Version 2.478
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • CVID
  • hypogammaglobulinaemia
  • lymphadenopathy
  • T cell lymphopenia
  • enteropathy
  • interstitual lung disease
  • autoimmunity
  • Autoimmune lymphoproliferative syndrome, type V 616100
  • Autoimmune lymphoproliferative syndrome, type V
  • Combined immunodeficiency
  • Early-onset multi-organ autoimmune disease
  • Immune dysregulation
  • a broad range of autoimmune phenomena have been described along with polyclonal lymphocytic infiltrates. Susceptibility to infection and hypogammaglobulinaemia are not usually present in isolation
  • Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections
  • Diseases of Immune Dysregulation

Green CTLA4 in Severe Paediatric Disorders


Version 1.84

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type V, 616100