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Newborns main panel

Gene: BLNK

Green List (high evidence)
BLNK (B-cell linker)
EnsemblGeneIds (GRCh38): ENSG00000095585
EnsemblGeneIds (GRCh37): ENSG00000095585
OMIM: 604515, Gene2Phenotype
BLNK 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
https://search.clinicalgenome.org/kb/genes/HGNC:14211
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 4
OMIM
604515
Clinvar variants
Variants in BLNK
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: BLNK were changed from Agammaglobulinemia 4 to Agammaglobulinaemia 4

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Agammaglobulinemia 4 for gene: BLNK

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Agammaglobulinemia 4 for gene: BLNK

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Agammaglobulinemia 4 for gene: BLNK

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 BLNK. Added phenotypes Agammaglobulinemia 4 for gene: BLNK 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: BLNK was added gene: BLNK was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: BLNK was set to BIALLELIC, autosomal or pseudoautosomal