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  3. CTLA4
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Autoimmune Lymphoproliferative Syndrome

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 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 39060684; 3x individuals. 1x missense, 1x splice 1x PTC

PMID:38302222; 9x in Center for Chronic Immunodeficiency in Freiburg, Germany database
Sources: Literature
Created: 15 Jan 2025, 1:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100; autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Jan 2025, 1:22 a.m.

Panel version: 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100
  • autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493
OMIM
123890
Clinvar variants
Variants in CTLA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

15 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

15 Jan 2025, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: CTLA4 was added gene: CTLA4 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTLA4 were set to 39060684; 38302222 Phenotypes for gene: CTLA4 were set to Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100; autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493 Review for gene: CTLA4 was set to GREEN gene: CTLA4 was marked as current diagnostic