1. Panels
  2. Common Variable Immunodeficiency
  3. BLK
STRs in panel
Prev Next
Regions in panel
Prev Next

Common Variable Immunodeficiency

Gene: BLK

Amber List (moderate evidence)
BLK (BLK proto-oncogene, Src family tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000136573
EnsemblGeneIds (GRCh37): ENSG00000136573
OMIM: 191305, Gene2Phenotype
BLK is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single family with 2 affected cases with a heterozygous missense (L3P), with supporting in vitro and patient cell assays.
Sources: Literature
Created: 23 Jul 2020, 3:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
common variable immunodeficiency

Publications

Created: 23 Jul 2020, 3:17 a.m.

Panel version: 0.86

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • common variable immunodeficiency
OMIM
191305
Clinvar variants
Variants in BLK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: blk has been classified as Amber List (Moderate Evidence).

9 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: blk has been classified as Amber List (Moderate Evidence).

23 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: BLK was added gene: BLK was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BLK were set to 25926555 Phenotypes for gene: BLK were set to common variable immunodeficiency Review for gene: BLK was set to AMBER