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  3. CTLA4
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Gastrointestinal epithelial barrier disorders

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

4 reviews

Olivia Niblock (Genomics England Curator)

Comment on mode of inheritance: Change from no MOI to Monoallelic, autosomal or pseudoautosomal, imprinted status unknown. 26/07/2018
Created: 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 Disease
Created: 25 Jul 2018, 4:52 p.m.
Created: 25 Jul 2018, 4:52 p.m.

Panel version: 1.1

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

Created: 16 May 2017, 8:51 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 1.8

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.
Created: 12 Oct 2016, 11:23 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.152

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

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
None
Panels with this gene

History Filter Activity

26 Jul 2018, Gel status: 3

Set mode of inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for gene: CTLA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

26 Jul 2018, Gel status: 3

Set mode of inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for gene: CTLA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: ctla4 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

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

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

CTLA4 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

CTLA4 was created by Olivia Niblock