1. Panels
  2. Intestinal failure or congenital diarrhoea
  3. CTLA4
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Intestinal failure or congenital diarrhoea

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

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Created: 8 Mar 2022, 11:44 a.m.
Last Modified: 8 Mar 2022, 11:44 a.m.
Panel version: 1.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, OMIM:616100
  • {Celiac disease, susceptibility to, 3}, OMIM:609755
OMIM
123890
Clinvar variants
Variants in CTLA4
Penetrance
None
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CTLA4 was added gene: CTLA4 was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CTLA4 were set to Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, OMIM:616100; {Celiac disease, susceptibility to, 3}, OMIM:609755