Genomic imprinting

Gene: KCNQ1OT1

Green List (high evidence)

Expression is increased (from biallelic expression), in patients with Beckwith-Wiedemann syndrome associated with imprinting centre 2 epimutations (PMID: 10220444) and expression is also increased with paternal UPD11 (comment from Eamonn Maher, Department of Medical Genetics, University of Cambridge).

Created: 29 Apr 2021, 4:18 p.m. | Last Modified: 29 Apr 2021, 4:18 p.m.

Panel Version: 0.104

The promoter of KCNQ1OT1, which lies in an intron of KCNQ1, is the regulatory region of CDKN1C. It is >100kb and includes elements subject to parent-of-origin specific regulation. Indels and rearrangements of the region are well-established causes of disease, associated in some but not all cases with alterations of DNA methylation marks.http://www.imprinting-disorders.eu/?page_id=21;http://www.imprinting-disorders.eu/?page_id=1112 This is a (b) gene for which alteration of effective copy number is associated with disease (though mutations in the transcript are currently not identified)

Created: 4 May 2017, 2:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Affected tissue: all

Publications

• PMID: 15372379
• 22205991
• 23511928

Variants in this GENE are reported as part of current diagnostic practice