1. Panels
  2. A- or hypo-gammaglobulinaemia
  3. CD19
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A- or hypo-gammaglobulinaemia

Gene: CD19

Green List (high evidence)
CD19 (CD19 molecule)
EnsemblGeneIds (GRCh38): ENSG00000177455
EnsemblGeneIds (GRCh37): ENSG00000177455
OMIM: 107265, Gene2Phenotype
CD19 is in 2 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypogammaglobulinaemia; CVID

Publications

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Two expert reviews. Not associated with phenotype on Gen2Phen. Six variants reported in homozygotes from different populations
Created: 11 May 2016, 9:18 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 3 613493
  • hypogammaglobulinemia
OMIM
107265
Clinvar variants
Variants in CD19
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 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).

11 May 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CD19 were set to Immunodeficiency, common variable, 3 613493;hypogammaglobulinemia

11 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).

11 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: 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

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: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CD19 were set to Immunodeficiency, common variable, 3 613493; hypogammaglobulinemia

10 May 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CD19 was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CD19 were set to 16672701; 21330302; 21159371

12 Oct 2015, Gel status: 0

Added New Source

Peter Arkwright (Royal Manchester Foundation Trust)

CD19 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Literature