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  2. Monogenic Diabetes
  3. BLK
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Monogenic 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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

The initial missense reported to segregate with MODY (p.Ala71Thr) is too common in gnomAD (AF 0.01160, 26 homozygotes) for a dominant disease. Additionally, a case control study found the variant in 52 normoglycaemic individuals. The other two non-coding variants reported in the publication are not detectable by WES. A rare missense variant was identified in an obese woman with pre GDM and postpartum diabetes.
Created: 6 Feb 2020, 11:17 p.m. | Last Modified: 6 Feb 2020, 11:17 p.m.
Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Maturity-onset diabetes of the young, type 11 MIM#613375

Publications

Created: 6 Feb 2020, 11:17 p.m.
Last Modified: 6 Feb 2020, 11:17 p.m.
Panel version: Imported from Maturity-onset Diabetes of the Young panel version 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Royal Melbourne Hospital
Phenotypes
  • Maturity-onset diabetes of the young, type 11, 613375
  • Maturity Onset Diabetes of the Young
OMIM
191305
Clinvar variants
Variants in BLK
Penetrance
None
Panels with this gene

History Filter Activity

17 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BLK was added gene: BLK was added to Monogenic diabetes. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BLK were set to Maturity-onset diabetes of the young, type 11, 613375; Maturity Onset Diabetes of the Young