Genomic imprinting
Gene: KCNQ1OT1
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
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: KCNQ1OT1 were set to 23511928; 15372379; 30794780; http://igc.otago.ac.nz/home.html; 22205991
Phenotypes for gene: KCNQ1OT1 were changed from Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome; Affected tissue: all to Beckwith-Wiedemann syndrome OMIM:130650
Publications for gene: KCNQ1OT1 were set to 23511928; PMID: 15372379; 30794780; http://igc.otago.ac.nz/home.html; 22205991
Tag locus-type-rna-long-non-coding tag was added to gene: KCNQ1OT1.
Source Literature was added to KCNQ1OT1. Mode of inheritance for gene KCNQ1OT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene KCNQ1OT1 were updated from PMID: 15372379; 22205991; 23511928 to 23511928; PMID: 15372379; 30794780; http://igc.otago.ac.nz/home.html; 22205991
This gene has been classified as Green List (High Evidence).
KCNQ1OT1 was created by ellenmcdonagh
KCNQ1OT1 was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain