Gastrointestinal epithelial barrier disorders
Gene: CTLA4Comment on mode of inheritance: Change from no MOI to Monoallelic, autosomal or pseudoautosomal, imprinted status unknown. 26/07/2018Created: 26 Jul 2018, 9:47 a.m.
Comment on list classification: Expert review green and evidence for gastrointestinal phenotypes as part of Autoimmune lymphoproliferative syndrome, type V. Additionally, variants in gene are noted to provide susceptability to Coeliac DiseaseCreated: 25 Jul 2018, 4:52 p.m.
Penetrance is suggested to be incomplete - see PMID: 25329329;25213377.Created: 16 May 2017, 8:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diarrhea/enteropathy; Hypogammaglobulinemia; Granulomatous lymphocytic interstitial lung disease; Respiratory infections; Organ infiltration (bone marrow, kidney, brain, liver); Splenomegaly; Autoimmune thrombocytopenia; Autoimmune hemolytic anemia; Lymphadenopathy; Psoriasis and other skin diseases; Autoimmune thyroiditis; Autoimmune arthritis
Comment on list classification: Gene rated green by expert reviewer. Multiple Autoimmune lymphoproliferative syndrome, type V cases reported in OMIM with different variants in this gene, which includes Lymphocytic enteropathy and Diarrhea as a clinical feature.Created: 12 Oct 2016, 11:23 a.m.
Mode of inheritance for gene: CTLA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance for gene: CTLA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: ctla4 has been classified as Green List (High Evidence).
Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
CTLA4 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
CTLA4 was created by Olivia Niblock