Predominantly Antibody Deficiency

Gene: CD79B

Green List (high evidence)

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

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

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

History Filter Activity

20 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cd79b has been classified as Green List (High Evidence).

20 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CD79B were changed from to Agammaglobulinaemia 6, MIM# 612692

20 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CD79B were set to

20 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CD79B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

20 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CD79B.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CD79B was added gene: CD79B was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: CD79B was set to Unknown