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Newborns main panel

Gene: CD79B

Green List (high evidence)
CD79B (CD79b molecule)
EnsemblGeneIds (GRCh38): ENSG00000007312
EnsemblGeneIds (GRCh37): ENSG00000007312
OMIM: 147245, Gene2Phenotype
CD79B is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
3 patients from 3 publications reported with homozygous variants in CD79B (PMID: 17675462; 17709424, 24722855). And PMID: 33733381 (2 sibs with homozygous variant)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Agammaglobulinaemia 6
OMIM
147245
Clinvar variants
Variants in CD79B
Penetrance
None
Panels with this gene

History Filter Activity

12 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CD79B were changed from Agammaglobulinemia 6 to Agammaglobulinaemia 6

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Agammaglobulinemia 6 for gene: CD79B

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CD79B. Added phenotypes Agammaglobulinemia 6 for gene: CD79B Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CD79B. Added phenotypes Agammaglobulinemia 6 for gene: CD79B Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CD79B. Added phenotypes Agammaglobulinemia 6 for gene: CD79B Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CD79B was added gene: CD79B was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CD79B was set to BIALLELIC, autosomal or pseudoautosomal