Familial diabetes

Gene: BLK

Red List (low evidence)

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

3 reviews

Ivone Leong (Genomics England Curator)

Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.
Created: 25 Jan 2019, 11:45 a.m.

Sian Ellard (University of Exeter Medical School)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from amber to red due to expert review.
Created: 7 Jun 2016, 9:23 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Maturity Onset Diabetes of the Young
  • Maturity-onset diabetes of the young, type 11, 613375
OMIM
191305
Clinvar variants
Variants in BLK
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

BLK was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BLK was added to Familial diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services