A- or hypo-gammaglobulinaemia

Gene: BLNK

Green List (high evidence)

BLNK (B-cell linker)
EnsemblGeneIds (GRCh38): ENSG00000095585
EnsemblGeneIds (GRCh37): ENSG00000095585
OMIM: 604515, Gene2Phenotype
BLNK is in 1 panel

4 reviews

Christopher Duncan (Newcastle University)

Green List (high evidence)

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
agammaglobulinaemia with absent B cells

Publications

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: three expert reviews
Created: 10 May 2016, 9:44 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Agammaglobulinemia 4, 613502
  • agammaglobulinaemia with absent B cells
OMIM
604515
Clinvar variants
Variants in BLNK
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).

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

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: 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

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

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for BLNK 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: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

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 Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for BLNK were set to Agammaglobulinemia 4, 613502; agammaglobulinaemia with absent B cells

10 May 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for BLNK were set to 10583958; 19302039; 24582315; 25893637

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

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