Predominantly Antibody Deficiency
Gene: CD19

CD19 (CD19 molecule)
EnsemblGeneIds (GRCh38): ENSG00000177455
EnsemblGeneIds (GRCh37): ENSG00000177455
OMIM: 107265, Gene2Phenotype
CD19 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported. Clinical features include increased susceptibility to infection, hypogammaglobulinaemia, and normal numbers of mature B cells in blood, indicating a B-cell antibody-deficient immunodeficiency disorder.
Created: 9 Aug 2021, 12:32 a.m. | Last Modified: 9 Aug 2021, 12:32 a.m.

Panel Version: 0.74

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 3, MIM# 613493

Publications

Created: 9 Aug 2021, 12:32 a.m.
Last Modified: 9 Aug 2021, 12:32 a.m.
Panel version: 0.74

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Created: 21 Jul 2020, 1:48 a.m. | Last Modified: 21 Jul 2020, 1:48 a.m.

Panel Version: 0.40

Created: 21 Jul 2020, 1:48 a.m.
Last Modified: 21 Jul 2020, 1:48 a.m.
Panel version: Imported from Common Variable Immunodeficiency panel version 0.40

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency, common variable, 3, MIM# 613493

OMIM

107265

Clinvar variants

Variants in CD19

Penetrance

None

Publications

Panels with this gene