Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

Sian Ellard (University of Exeter Medical School)

Red List (low evidence)

Chris Boustred (Genomics England)

Comment when marking as ready: Move to Red list because of limited literature evidence and expert review
Created: 7 Jun 2016, 9:25 a.m.

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 Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Maturity-onset diabetes of the young, type 11, 613375
  • Maturity Onset Diabetes of the Young
OMIM
191305
Clinvar variants
Variants in BLK
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Jul 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

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

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

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

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BLK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BLK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BLK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BLK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene BLK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

BLK was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BLK was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen