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  3. CTLA4
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Disorders of immune dysregulation

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autoimmune lymphoproliferative syndrome type V is an autosomal dominant complex immune disorder characterized by autoimmune thrombocytopenias and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. Some patients may show features of an immunodeficiency syndrome with recurrent infections, but immunosuppressive therapy often results in clinical improvement. More than 10 unrelated families reported.
Created: 9 Aug 2021, 1:08 a.m. | Last Modified: 9 Aug 2021, 1:08 a.m.
Panel Version: 0.86

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoimmune lymphoproliferative syndrome, type V, MIM# 616100

Publications

Created: 9 Aug 2021, 1:08 a.m.
Last Modified: 9 Aug 2021, 1:08 a.m.
Panel version: 0.86

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported for autoimmune lymphoproliferative syndrome, type V
Created: 2 Nov 2020, 4:39 a.m. | Last Modified: 2 Nov 2020, 4:39 a.m.
Panel Version: 0.5244

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD

Created: 2 Nov 2020, 4:39 a.m.
Last Modified: 2 Nov 2020, 4:39 a.m.
Panel version: Imported from Mendeliome panel version 0.5244

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type V, MIM# 616100
OMIM
123890
Clinvar variants
Variants in CTLA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTLA4 were changed from to Autoimmune lymphoproliferative syndrome, type V, MIM# 616100

9 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTLA4 were set to

9 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CTLA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTLA4 was added gene: CTLA4 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CTLA4 was set to Unknown