Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: CTLA4

Green List (high evidence)

CTLA4 (cytotoxic T-lymphocyte associated protein 4)
EnsemblGeneIds (GRCh38): ENSG00000163599
EnsemblGeneIds (GRCh37): ENSG00000163599
OMIM: 123890, Gene2Phenotype
CTLA4 is in 6 panels

3 reviews

Owen Siggs (Flinders University)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

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.

Neil shah (GOSH)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • CTLA4 deficiency
OMIM
123890
Clinvar variants
Variants in CTLA4
Penetrance
Complete
Publications
  • 25367873 - a family with Crohn's disease (CD) and severe autoimmunity
  • 25329329 - family and further cases reported with hypogammaglobulinemia, recurrent infections and multiple autoimmune clinical features
  • 25213377
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

12 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Oct 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CTLA4 were set to 25367873 - a family with Crohn's disease (CD) and severe autoimmunity; 25329329 - family and further cases reported with hypogammaglobulinemia, recurrent infections and multiple autoimmune clinical features; 25213377

12 Oct 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CTLA4 were set to 25367873 - a family with Crohn's disease (CD) and severe autoimmunity; 25329329 - family and further cases reported with hypogammaglobulinemia, recurrent infections and multiple autoimmune clinical features.

10 May 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CTLA4 were set to

10 May 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CTLA4 were set to 25329329;

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CTLA4 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CTLA4 was created by ellenmcdonagh