A- or hypo-gammaglobulinaemia

Gene: CD79A

Red List (low evidence)

CD79A (CD79a molecule)
EnsemblGeneIds (GRCh38): ENSG00000105369
EnsemblGeneIds (GRCh37): ENSG00000105369
OMIM: 112205, Gene2Phenotype
CD79A is in 1 panel

5 reviews

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Owen Siggs (Flinders University)

Green List (high evidence)

Added ref to third homozygous LoF case report (24481606).
Created: 16 May 2017, 7:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Sophie Hambleton (Newcastle University)

Red List (low evidence)

ONly 2 cases ever described so probably needs a very careful review before clinical reporting!
Created: 6 Jan 2017, 3:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
agammaglobulinaemia

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Two positve and one negative expert reviewers. Not associated with disease on Gen2PHen. Two homozygous LOF variants in publications.
Created: 11 May 2016, 10:36 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Agammaglobulinemia 3, 613501
OMIM
112205
Clinvar variants
Variants in CD79A
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: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CD79A were set to 10525050; 11920841

11 May 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CD79A were set to Agammaglobulinemia 3, 613501

11 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: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CD79A were set to 10525050; 11920841

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: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CD79A 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 CD79A 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 CD79A were set to 10525050 11920841

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CD79A was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen