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  2. A- or hypo-gammaglobulinaemia
  3. CD79B
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A- or hypo-gammaglobulinaemia

Gene: CD79B

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

4 reviews

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sophie Hambleton (Newcastle University)

Red List (low evidence)

only 2 cases described so caution required
Created: 6 Jan 2017, 3:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 6 Jan 2017, 3:16 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Two positive expert reviews and one negative. No association with disease on Gen2Phen. Two homozygous LOF variants reported in the literature
Created: 11 May 2016, 9:34 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Agammaglobulinemia 6, 612692
OMIM
147245
Clinvar variants
Variants in CD79B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 May 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CD79B were set to 17675462; 17709424

11 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CD79B were set to Agammaglobulinemia 6, 612692

11 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CD79B were set to 17675462; 17709424

10 May 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CD79B were set to Agammaglobulinemia 6, 612692

10 May 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CD79B was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 1

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for CD79B was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

10 May 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CD79B were set to 17675462 17709424

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CD79B was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen