Predominantly Antibody Deficiency
Gene: CD79B

CD79B (CD79b molecule)
EnsemblGeneIds (GRCh38): ENSG00000007312
EnsemblGeneIds (GRCh37): ENSG00000007312
OMIM: 147245, Gene2Phenotype
CD79B is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association, at least 4 families reported. Treatable with IVIG.
Created: 20 Oct 2022, 11:57 p.m. | Last Modified: 20 Oct 2022, 11:57 p.m.

Panel Version: 0.119

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agammaglobulinaemia 6, MIM# 612692

Publications

Created: 20 Oct 2022, 11:57 p.m.
Last Modified: 20 Oct 2022, 11:57 p.m.
Panel version: 0.119

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

4 unrelated families
Created: 18 Apr 2022, 10:05 p.m. | Last Modified: 18 Apr 2022, 10:05 p.m.

Panel Version: 0.13020

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Agammaglobulinemia 6 MIM#612692

Publications

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

Created: 18 Apr 2022, 10:05 p.m.
Last Modified: 18 Apr 2022, 10:05 p.m.
Panel version: Imported from Mendeliome panel version 0.13020

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 6, MIM# 612692

Tags

treatable

OMIM

147245

Clinvar variants

Variants in CD79B

Penetrance

None

Publications

Panels with this gene