A- or hypo-gammaglobulinaemia
Gene: CTLA4

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

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Predominant phenotype is immune dysregulation; a broad range of autoimmune phenomena have been described along with polyclonal lymphocytic infiltrates. Susceptibility to infection and hypogammaglobulinaemia are not usually present in isolation

Created: 6 Jan 2017, 3:02 p.m.

Panel version: 1.4

Ellen Thomas (Genomics England Curator)

Comment on list classification: Autoimmune condition leading to reduced T and B cells and hypogammaglobulinaemia.
Created: 16 May 2016, 1:46 p.m.

Created: 16 May 2016, 1:46 p.m.

Panel version: 0.123

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: No expert review. No association with disease in Gen2Phen. Numerous variants reported in AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V in the two publications cited
Created: 13 May 2016, 7:27 a.m.

Created: 11 May 2016, 8:12 a.m.

Panel version: 0.96

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

CVID
hypogammaglobulinaemia
lymphadenopathy
T cell lymphopenia
enteropathy
interstitual lung disease
autoimmunity
Autoimmune lymphoproliferative syndrome, type V 616100

OMIM

123890

Clinvar variants

Variants in CTLA4

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

16 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

11 May 2016, Gel status: 2