MODY Type 11
Definition
Heterozygous pathogenic variants in the BLK gene impair the regulatory role of B-lymphocyte kinase in insulin secretion in the beta cell; MODY11 is an extremely rare subtype accounting for less than 1% of all MODY cases. Some studies have noted that the evidence for BLK's pathogenicity as a MODY gene is weak.
Gene/region analyzed
BLK - Exon 1, BLK - Exon 2, BLK - Exon 3, BLK - Exon 4, BLK - Exon 5, BLK - Exon 6, BLK - Exon 7, BLK - Exon 8, BLK - Exon 9, BLK - Exon 10, BLK - Exon 11, BLK - Exon 12, BLK - Exon 13
Method
Sequence analysis
Accepted sample types
EDTA blood, AF, CVS
Inheritance
Hereditary, autosomal dominant.