Predominantly Antibody Deficiency
Gene: CD79A

CD79A (CD79a molecule)
EnsemblGeneIds (GRCh38): ENSG00000105369
EnsemblGeneIds (GRCh37): ENSG00000105369
OMIM: 112205, Gene2Phenotype
CD79A is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agammaglobulinaemia 3, MIM#613501

Publications

Created: 14 Apr 2022, 5:52 a.m.
Last Modified: 14 Apr 2022, 5:52 a.m.
Panel version: 0.105

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 5 unrelated families
Created: 11 Apr 2022, 6:44 a.m. | Last Modified: 11 Apr 2022, 6:44 a.m.

Panel Version: 0.12853

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agammaglobulinemia 3 MIM#613501

Publications

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

Created: 11 Apr 2022, 6:44 a.m.
Last Modified: 11 Apr 2022, 6:44 a.m.
Panel version: Imported from Mendeliome panel version 0.12853

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Agammaglobulinaemia 3, MIM#613501

Tags

treatable

OMIM

112205

Clinvar variants

Variants in CD79A

Penetrance

None

Publications

Panels with this gene