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Maturity-onset Diabetes of the Young

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

REFUTED by ClinGen MODY GCEP on 17/01/2023 - https://search.clinicalgenome.org/CCID:004261
Created: 25 Apr 2024, 6:51 a.m. | Last Modified: 25 Apr 2024, 6:51 a.m.
Panel Version: 1.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
monogenic diabetes MONDO:0015967

Created: 25 Apr 2024, 6:51 a.m.
Last Modified: 25 Apr 2024, 6:51 a.m.
Panel version: 1.17

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: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity-onset diabetes of the young, type 11 MIM#613375
Tags
refuted
OMIM
191305
Clinvar variants
Variants in BLK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: blk has been classified as Red List (Low Evidence).

30 Apr 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BLK were changed from Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young, type 11, 613375 to Maturity-onset diabetes of the young, type 11 MIM#613375

30 Apr 2024, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BLK were set to

30 Apr 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag refuted tag was added to gene: BLK.

6 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: blk has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BLK was added gene: BLK was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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; Maturity-onset diabetes of the young, type 11, 613375